NALCN-AS1 (NALCN antisense RNA 1) - Chinchilla Research Resource Database

Gene: NALCN-AS1 (NALCN antisense RNA 1) Homo sapiens

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Symbol:

NALCN-AS1

Name:

NALCN antisense RNA 1

Description:

ASSOCIATED WITH CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; INTERACTS WITH benzo[e]pyrene; methapyrilene

Type:

ncrna

RefSeq Status:

VALIDATED

Also known as:

RP11-430M15.1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	100,708,325 - 101,059,286 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	13	101,360,579 - 101,711,638 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	13	q32.3	NCBI
HuRef	13	81,956,388 - 82,307,484 (+)	NCBI		HuRef
CHM1_1	13	101,330,827 - 101,681,623 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation (Toggle Annotation Detail/Summary View)

Disease Annotations

Gene-Chemical Interaction Annotations

References - curated

References - uncurated

Genomics

miRNA Target Status

Expression

Sequence

Nucleotide Sequences

RefSeq Transcripts	NR_047687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEKP01041322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137879	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL138707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL139374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL356732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL359085	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF455820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

NR_047687

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	13	100,708,325 - 101,059,286 (+)	NCBI
GRCh37	13	101,360,579 - 101,711,638 (+)	NCBI
HuRef	13	81,956,388 - 82,307,484 (+)	NCBI
CHM1_1	13	101,330,827 - 101,681,623 (+)	NCBI

Sequence:

show sequence

CTCGCAAGACCTGGTTGTTTAAAAGTGGGCGGCACCTTCCCCTTCGCTCTTCCTCCTGCTCCTG
CCCTGATGTGTCTGGATGGTGACAGATGGGAATCTTCTCCAGTGACCAGAATCCATGCCTTACC
TTGGGAGCCCAAGCTGACTTCTCAAGCTCTGGGGATGCCTCAGTGATCTCTGATGTGGAATTAG
TGGAGGCTGGCCGTTGCTCACCTCTACACAGCCTGCTGGTCGTTAGCGAGCAGGAGTTCTGATG
TTCCTCTCATCTTGGATGTCTTTCCTAGGAGAATATTTCTCACGTGTTTGACAGAAAACATTAT
CTGTCCATCATTTCCATGGATTCCTGGGTCTCACGGGCAGAAGGACAAGGCAGATATGAGGCGG
ATCTGGTAAAACCATAAACACCATGAGATCAGAGCATCCATCTGTAGACTCACAGAGCAAGAAG
CGTGACTGCCCCAATCTTGAATGGATGAGTAAGATGAAAATCAATTTATAAACATCTTGTGACA
AGCTGGAATTCAGTTATAGATCAATTACAGATTGCTCACTGGACAATCAAGGACATTATTAGAA
AACGGTTTCCACCACTAGAAATTCATCTACATTGACATCCACCTAAATATCCAGAAGGTCATCC
CCACTTTCGTCGCTCTCCACAGTCAGCTGCCGGGTCCACCACTTCTTAACTTCAGAACCGCAGG
AAGCCGCGTCAGTCATGGGGTTCATTTTGCACACGACAGATTTCATGGTTGTCCTTCCTCCAAA
CCGAGGAACCTAGATCTTCTCTGATCTCTGAAAAATAAGTTCCTGGATATGAAAGGGGATACTT
TCCTTGGTGGTAGTCCCAGTGAAGACCCACTGAACATCGTCAGCCTCAAAATGTAAGCTGTGCT
GTCATCTGCTTTGTGGAACACATATGCTACACATCTTCTCCTTTCAATTGGGCTGAAGTTGGGG
CACAGTTAAAGAGCATTATAAAGCTCCTGCTTTAGCATGAACTTAGTTATCTATAGAAAAAAAC
ATGTACAAGGACACTGGGCTGTGGGGAGCATTGCTCTCCCTCCATTCCTGAGTGCTCTTAATGG
GATTATCCTGGCTTTCCAAAACCCTATAGAGAAGAAGCTCATAGAAGAAAATTCTCTTACTGAA
TCAGTAAAATATGGAAAATAATGGGACTGTTTATTAAAGGATTGAATGAGAGAACACAAGTAAT
GCACTTAGAAGAGTGACTGGCATACAGTGAGTACTACGTGCTGGCTTCTCAACCATGATAGCCT
GAAATGTACCCGGAAAATGGGGGCTAATGTAAGTCATATTTAGAGAAGTTATTTTGGGGGACAA
TGTTTTTGACAAGACTACATTTTTCATTATGTTGCTGTCTGTAAACAACTGTAGATGCAGACTT
GCATTTTGAAAGGCAAGACCCAAAACACACAAACAGAGTAAATACCTTTAAAATGCCTCGATCG
CTGGAGAAATGCCTGGATGGACCTACCTGAGGGCAGACGCCACTGCCCAAATTTCCTCTGGGGT
TTCCCTGCGTCGGCTGCATCTTGCCGACTTCCTCCTCGATCCGACAGCGTGGGGCTCAGGAGCT
GCTGCTGGCTGCTTGTCTGCATGGGAGGAGAAGCACACAGTTACCGTCTTTTTAACCCTGCGCT
CTCCTCCTTTTACTATAAGAAAGGAAAACACATGGCAGGAGGACAAGTGGGAAGAACAACATGG
ACTCAGAGTGTCCACAATGGGGAAAAGTGAAAATGGGTATAAAGGGTCACAGAAGAAAAAGAGC
CACCACTGCACGCCCTGCTGAAGGAGACACCACTCTTCCTGGGACATCTTGTCCTGGGTAACCC
CCACTGCTTCGTTCCCCTCCATGCCTGAGAATGTCATTGTTTCCCTTCATATCTTCGCTGGCAA
ACCAGGGGGTAAGGAAGGGGAACTGCAGGAAGGAAGGTGGGGCAGTGGGGACGGGCTGGGCGGG
GGCAGTCTACTGTCACCAGCCTGGAGATCCACACTTAGAGCTTCAGGGAAAGAGTTCTCTGCAG
GCAAAGCTGTATGATGGGCCCTGGTGGAGGATGGAGCTGATAACAATCTAAGCTACAGTGAAAG
AAAGAGAGATGCCAAGACTTCCCACACATTTCACCTGTTCTCAGGTTCACCTGTCACCTCTCCC
TTTCCTAACAAAAGCCTTGGTCTTCACATCTCTTTAGTATCCTTTTTTTTTTTTTTTTGTCACC
TCTTTCTTTCTTAGGCTTTTTCATCTAAAAACAGAGGGCTCTGAAATCATCACTTTCCCCAACC
TCATTAGCCCTGTCTCACTGTCTGTCCTGACTTCAGCCTGCCTCCCTCTCCCATGCGAGACATT
GCCAACCATCTTCAGGGTGACCAGTGGCAAGGCCACTGCAGATGCCTCCCCTTGCCCCTTGGTT
GACTAACTCCGCAGAAGTCCCTGCAGTCGGTGGCAGATGATTTCTAAAGGCTGGGGAGCCCAAA
ACATGAGATCTACTGAAAACTGAGCTATGGCACCAGTGGGCCTCCTGGAGCACCCTGCTGGGCC
GTGGAGCCTTAGGCTTCCAAAGGTACTCTGGCCCCTGGCTGCGTTGCTGCACACCATGGAGCCT
GGTGCTGCTGGGGGCTCTGCACAGAGCACGGGATCAGCTCCACGTTGTTAACCTCAAATCGTAA
TTGCTGCCTCATAAAGGGGCAGGTCCTCCCAGCCAGCTGCTTCTCACAGCACAGGACTCTCCAG
GACGCTGATAACTCCTTGTACTTTTTTATATAGACACATACATAGAGTTTGAAAATGAAAATAT
GCTGTGACTTAATAAATAGAAACTCCTCAAAAAAAAAAAAAAAAA

hide sequence

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NR_047687.1(NALCN-AS1):n.141+62154G>T	single nucleotide variant	Lung cancer [RCV000097595]	Chr13:100802782 [GRCh38] Chr13:101455036 [GRCh37] Chr13:13q32.3	uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	copy number gain	See cases [RCV000134104]	Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	copy number gain	See cases [RCV000133986]	Chr13:98008015..103697232 [GRCh38] Chr13:98660269..104349582 [GRCh37] Chr13:97458270..103147583 [NCBI36] Chr13:13q32.2-33.1	pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	copy number loss	See cases [RCV000135610]	Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	copy number gain	See cases [RCV000137102]	Chr13:88937651..114327173 [GRCh38] Chr13:89589905..115085141 [GRCh37] Chr13:88387906..114110750 [NCBI36] Chr13:13q31.2-34	pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	copy number loss	See cases [RCV000136688]	Chr13:93345058..109458154 [GRCh38] Chr13:93997311..110110501 [GRCh37] Chr13:92795312..108908502 [NCBI36] Chr13:13q31.3-33.3	pathogenic
GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	copy number loss	See cases [RCV000138024]	Chr13:97213871..109162916 [GRCh38] Chr13:97866125..109815264 [GRCh37] Chr13:96664126..108613265 [NCBI36] Chr13:13q32.1-33.3	pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	copy number loss	See cases [RCV000137893]	Chr13:40942298..114340331 [GRCh38] Chr13:41516434..115085141 [GRCh37] Chr13:40414434..114123908 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	copy number gain	See cases [RCV000138742]	Chr13:78999318..114327106 [GRCh38] Chr13:79573453..115085141 [GRCh37] Chr13:78471454..114110683 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	copy number loss	See cases [RCV000138340]	Chr13:86788927..114340331 [GRCh38] Chr13:87441182..115085141 [GRCh37] Chr13:86239183..114123908 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	copy number gain	See cases [RCV000139078]	Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	copy number gain	See cases [RCV000139021]	Chr13:95744855..110863818 [GRCh38] Chr13:96397109..111516165 [GRCh37] Chr13:95195110..110314166 [NCBI36] Chr13:13q32.1-34	pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	copy number gain	See cases [RCV000139160]	Chr13:96745059..114327106 [GRCh38] Chr13:97397313..115085141 [GRCh37] Chr13:96195314..114110683 [NCBI36] Chr13:13q32.1-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	copy number gain	See cases [RCV000140004]	Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	copy number gain	See cases [RCV000141248]	Chr13:78964223..114340331 [GRCh38] Chr13:79538358..115085141 [GRCh37] Chr13:78436359..114123908 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	copy number gain	See cases [RCV000141804]	Chr13:83288131..114342258 [GRCh38] Chr13:83862266..115107733 [GRCh37] Chr13:82760267..114125835 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	copy number gain	See cases [RCV000142924]	Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	copy number gain	See cases [RCV000143462]	Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	See cases [RCV000148126]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]\|See cases [RCV000051380]	Chr13:82581008..114327173 [GRCh38] Chr13:83155143..115085141 [GRCh37] Chr13:82053144..114110750 [NCBI36] Chr13:13q31.1-34	pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051418]\|See cases [RCV000051418]	Chr13:91366227..114327314 [GRCh38] Chr13:92018481..115085141 [GRCh37] Chr13:90816482..114110891 [NCBI36] Chr13:13q31.3-34	pathogenic
GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1	copy number loss	Global developmental delay [RCV000051420]\|See cases [RCV000051420]	Chr13:99034367..101217397 [GRCh38] Chr13:99686621..101869748 [GRCh37] Chr13:98484622..100667749 [NCBI36] Chr13:13q32.3-33.1	pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]\|See cases [RCV000051421]	Chr13:101049614..114327314 [GRCh38] Chr13:101587036..115085141 [GRCh37] Chr13:100385037..114110891 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	copy number gain	Seizure [RCV000051179]\|See cases [RCV000051179]	Chr13:82032938..106082542 [GRCh38] Chr13:82607073..106734891 [GRCh37] Chr13:81505074..105532892 [NCBI36] Chr13:13q31.1-33.2	pathogenic
GRCh38/hg38 13q32.3-33.1(chr13:101049614-101387801)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051925]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051925]\|See cases [RCV000051925]	Chr13:101049614..101387801 [GRCh38] Chr13:101633906..102040152 [GRCh37] Chr13:100431907..100838153 [NCBI36] Chr13:13q32.3-33.1	uncertain significance
GRCh38/hg38 13q32.3-33.1(chr13:101049614-101636191)x3	copy number gain	Global developmental delay [RCV000052031]\|See cases [RCV000052031]	Chr13:101049614..101636191 [GRCh38] Chr13:101615128..102288541 [GRCh37] Chr13:100413129..101086542 [NCBI36] Chr13:13q32.3-33.1	uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]\|See cases [RCV000053731]	Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]\|See cases [RCV000053719]	Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	copy number gain	Premature Birth [RCV000053723]\|See cases [RCV000053723]	Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34	pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]\|See cases [RCV000053726]	Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34	pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]\|See cases [RCV000053790]	Chr13:93213623..101537104 [GRCh38] Chr13:93865876..102189455 [GRCh37] Chr13:92663877..100987456 [NCBI36] Chr13:13q31.3-33.1	pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]\|See cases [RCV000053792]	Chr13:99472316..114293545 [GRCh38] Chr13:100124570..115059020 [GRCh37] Chr13:98922571..114077122 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	copy number gain	Corpus callosum agenesis [RCV000053795]\|See cases [RCV000053795]	Chr13:100039860..114327173 [GRCh38] Chr13:100692114..115085141 [GRCh37] Chr13:99490115..114110750 [NCBI36] Chr13:13q32.3-34	pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053759]\|See cases [RCV000053759]	Chr13:33528097..114327173 [GRCh38] Chr13:34102234..115085141 [GRCh37] Chr13:33000234..114110750 [NCBI36] Chr13:13q13.2-34	pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3	copy number gain	Polydactyly [RCV000053762]\|See cases [RCV000053762]	Chr13:43219125..114327314 [GRCh38] Chr13:43793261..115085141 [GRCh37] Chr13:42691261..114110891 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053764]\|See cases [RCV000053764]	Chr13:44164751..114327173 [GRCh38] Chr13:44738887..115085141 [GRCh37] Chr13:43636887..114110750 [NCBI36] Chr13:13q14.11-34	pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	copy number gain	Nonsyndromic microcephaly [RCV000053767]\|See cases [RCV000053767]	Chr13:44733046..114327173 [GRCh38] Chr13:45307182..115085141 [GRCh37] Chr13:44205182..114110750 [NCBI36] Chr13:13q14.12-34	pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053770]\|See cases [RCV000053770]	Chr13:74345951..114327314 [GRCh38] Chr13:74920088..115085141 [GRCh37] Chr13:73818089..114110891 [NCBI36] Chr13:13q22.1-34	pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]\|See cases [RCV000053772]	Chr13:80628584..114327173 [GRCh38] Chr13:81202719..115085141 [GRCh37] Chr13:80100720..114110750 [NCBI36] Chr13:13q31.1-34	pathogenic
NM_052867.4(NALCN):c.4977C>T (p.Asp1659=)	single nucleotide variant	not specified [RCV000241776]	Chr13:101057985 [GRCh38] Chr13:101710337 [GRCh37] Chr13:13q32.3	likely benign
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu)	single nucleotide variant	not specified [RCV000595285]	Chr13:101057985 [GRCh38] Chr13:101710337 [GRCh37] Chr13:13q32.3	uncertain significance
NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys)	single nucleotide variant	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000714747]	Chr13:101055324 [GRCh38] Chr13:101707676 [GRCh37] Chr13:13q32.3	uncertain significance
NM_052867.4(NALCN):c.5209G>C (p.Asp1737His)	single nucleotide variant	Congenital contractures of the limbs and face, hypotonia, and developmental delay [RCV000789014]	Chr13:101055303 [GRCh38] Chr13:101707655 [GRCh37] Chr13:13q32.3	uncertain significance

Additional Information

External Database Links

Nomenclature History

More on NALCN-AS1
	Alliance Gene
	NCBI Gene
	Ensembl Gene
	JBrowse: hg19 hg38
	HGNC Report
	NCBI Genome Data Viewer

CRRD Object Information
CRRD ID:	6484624
Created:	2012-06-27
Species:	Homo sapiens
Last Modified:	2019-11-26
Status:	ACTIVE

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Annotations - ClinVar