IGLV2-14 (immunoglobulin lambda variable 2-14) - Chinchilla Research Resource Database

Gene: IGLV2-14 (immunoglobulin lambda variable 2-14) Homo sapiens

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Symbol:

IGLV2-14

Name:

immunoglobulin lambda variable 2-14

Description:

Predicted to be involved in immune response and immunoglobulin production. Localizes to the extracellular exosome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine.

Type:

gene

RefSeq Status:

VALIDATED

Also known as:

IGLV214; V1-4

Orthologs:

No known orthologs.

homologs ...

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	22	22,758,741 - 22,759,211 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	22	23,101,230 - 23,101,700 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	21,431,404 - 21,431,700	NCBI	NCBI36		hg18	NCBI36
Celera	22	6,915,973 - 6,916,443 (+)	NCBI
Cytogenetic Map	22	q11.22	NCBI
HuRef	22	6,069,128 - 6,069,598 (+)	NCBI		HuRef
CHM1_1	22	23,113,211 - 23,113,681 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation (Toggle Annotation Detail/Summary View)

Disease Annotations

Gene-Chemical Interaction Annotations

Gene Ontology Annotations

References - curated

References - uncurated

Genomics

miRNA Target Status

Expression

Sequence

Nucleotide Sequences

Protein Sequences

Promoters

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23300977)x3	copy number gain	See cases [RCV000135338]	Chr22:22669543..23300977 [GRCh38] Chr22:23012013..23643164 [GRCh37] Chr22:21342013..21973164 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1	copy number loss	See cases [RCV000135086]	Chr22:22374043..22886630 [GRCh38] Chr22:22728411..23228810 [GRCh37] Chr22:21058411..21558810 [NCBI36] Chr22:22q11.22	benign
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	copy number loss	See cases [RCV000135739]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x3	copy number gain	See cases [RCV000136533]	Chr22:22669543..23301036 [GRCh38] Chr22:23012013..23643223 [GRCh37] Chr22:21342013..21973223 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3	copy number gain	See cases [RCV000136060]	Chr22:22669599..24670517 [GRCh38] Chr22:23012069..25066484 [GRCh37] Chr22:21342069..23396484 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	copy number loss	See cases [RCV000136889]	Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	copy number loss	See cases [RCV000137685]	Chr22:21454661..24247140 [GRCh38] Chr22:21808950..24643108 [GRCh37] Chr22:20138950..22973108 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3	copy number gain	See cases [RCV000137410]	Chr22:22660239..24644628 [GRCh38] Chr22:23002709..25040595 [GRCh37] Chr22:21332709..23370595 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	copy number loss	See cases [RCV000137767]	Chr22:21454661..23312035 [GRCh38] Chr22:21808950..23654222 [GRCh37] Chr22:20138950..21984222 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3	copy number gain	See cases [RCV000137795]	Chr22:22660239..24600238 [GRCh38] Chr22:23002709..24996205 [GRCh37] Chr22:21332709..23326205 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	copy number gain	See cases [RCV000138673]	Chr22:21207181..24247140 [GRCh38] Chr22:21561470..24643108 [GRCh37] Chr22:19891470..22973108 [NCBI36] Chr22:22q11.21-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3	copy number gain	See cases [RCV000138249]	Chr22:22660239..24596054 [GRCh38] Chr22:23002709..24992021 [GRCh37] Chr22:21332709..23322021 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669599-23312050)x1	copy number loss	See cases [RCV000139467]	Chr22:22669599..23312050 [GRCh38] Chr22:23012069..23654237 [GRCh37] Chr22:21342069..21984237 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	copy number loss	See cases [RCV000141233]	Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3	copy number gain	See cases [RCV000141936]	Chr22:22655333..24663664 [GRCh38] Chr22:22997803..25059631 [GRCh37] Chr22:21327803..23389631 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655458-23308687)x1	copy number loss	See cases [RCV000142309]	Chr22:22655458..23308687 [GRCh38] Chr22:22997928..23650874 [GRCh37] Chr22:21327928..21980874 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3	copy number gain	See cases [RCV000142221]	Chr22:22655333..24630890 [GRCh38] Chr22:22997803..25026857 [GRCh37] Chr22:21327803..23356857 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-23306603)x1	copy number loss	See cases [RCV000142985]	Chr22:22660239..23306603 [GRCh38] Chr22:23002709..23648790 [GRCh37] Chr22:21332709..21978790 [NCBI36] Chr22:22q11.22-11.23	likely benign
GRCh38/hg38 22q11.22-11.23(chr22:22669543-23301036)x1	copy number loss	See cases [RCV000142654]	Chr22:22669543..23301036 [GRCh38] Chr22:23012013..23643223 [GRCh37] Chr22:21342013..21973223 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-23312035)x3	copy number gain	See cases [RCV000143347]	Chr22:22660239..23312035 [GRCh38] Chr22:23002709..23654222 [GRCh37] Chr22:21332709..21984222 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3	copy number gain	See cases [RCV000143750]	Chr22:22655333..24647020 [GRCh38] Chr22:22997803..25042987 [GRCh37] Chr22:21327803..23372987 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	copy number gain	See cases [RCV000148078]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	copy number gain	See cases [RCV000148079]	Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-23310325)x1	copy number loss	See cases [RCV000143461]	Chr22:22655333..23310325 [GRCh38] Chr22:22997803..23652512 [GRCh37] Chr22:21327803..21982512 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3	copy number gain	Hemihypertrophy [RCV000050739]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050740]\|See cases [RCV000050739]	Chr22:22669543..24563859 [GRCh38] Chr22:23012013..24959827 [GRCh37] Chr22:21342013..23289827 [NCBI36] Chr22:22q11.22-11.23	conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	Cholesteatoma [RCV000050768]\|See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]\|See cases [RCV000053061]	Chr22:20726772..23135971 [GRCh38] Chr22:21081060..23478158 [GRCh37] Chr22:19411060..21808158 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053074]\|See cases [RCV000053074]	Chr22:21443815..24235645 [GRCh38] Chr22:21798104..24631613 [GRCh37] Chr22:20128104..22961613 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053075]\|See cases [RCV000053075]	Chr22:21443815..23397298 [GRCh38] Chr22:21798104..23739485 [GRCh37] Chr22:20128104..22069485 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1	copy number loss	Abnormality of the heart [RCV000053077]\|See cases [RCV000053077]	Chr22:21454461..24247296 [GRCh38] Chr22:21808750..24643264 [GRCh37] Chr22:20138750..22973264 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]\|See cases [RCV000053079]	Chr22:21454661..24289119 [GRCh38] Chr22:21808950..24685087 [GRCh37] Chr22:20138950..23015087 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]\|See cases [RCV000053084]	Chr22:21454661..24197852 [GRCh38] Chr22:21808950..24593820 [GRCh37] Chr22:20138950..22923820 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]\|See cases [RCV000053085]	Chr22:21454661..23301036 [GRCh38] Chr22:21808950..23643223 [GRCh37] Chr22:20138950..21973223 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	copy number loss	Nonsyndromic microcephaly [RCV000053087]\|See cases [RCV000053087]	Chr22:21457690..24220231 [GRCh38] Chr22:21811979..24616199 [GRCh37] Chr22:20141979..22946199 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	copy number loss	Global developmental delay [RCV000053090]\|See cases [RCV000053090]	Chr22:21562911..24307688 [GRCh38] Chr22:21917200..24703656 [GRCh37] Chr22:20247200..23033656 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053104]\|See cases [RCV000053104]	Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	copy number loss	Hydronephrosis [RCV000053108]\|See cases [RCV000053108]	Chr22:21623411..23315617 [GRCh38] Chr22:21977700..23657804 [GRCh37] Chr22:20307700..21987804 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22651209-23299955)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053109]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053109]\|See cases [RCV000053109]	Chr22:22651209..23299955 [GRCh38] Chr22:22993679..23642142 [GRCh37] Chr22:21323679..21972142 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660238-23305976)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]\|Gastroschisis [RCV000053111]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053110]\|See cases [RCV000053110]	Chr22:22660238..23305976 [GRCh38] Chr22:23002708..23648163 [GRCh37] Chr22:21332708..21978163 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-23315617)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053112]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053112]\|See cases [RCV000053112]	Chr22:22686122..23315617 [GRCh38] Chr22:23028586..23657804 [GRCh37] Chr22:21358586..21987804 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1	copy number loss	Stridor [RCV000053113]\|See cases [RCV000053113]	Chr22:22703701..23285204 [GRCh38] Chr22:23046186..23627391 [GRCh37] Chr22:21376186..21957391 [NCBI36] Chr22:22q11.22-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	copy number gain	Macrocephaly [RCV000053158]\|See cases [RCV000053158]	Chr22:21386914..23305976 [GRCh38] Chr22:21741203..23648163 [GRCh37] Chr22:20071203..21978163 [NCBI36] Chr22:22q11.21-11.23	pathogenic\|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053159]\|See cases [RCV000053159]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]\|Global developmental delay [RCV000053162]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053161]\|See cases [RCV000053161]	Chr22:22686122..24577664 [GRCh38] Chr22:23028586..24973632 [GRCh37] Chr22:21358586..23303632 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3	copy number gain	Nonsyndromic microcephaly [RCV000053163]\|See cases [RCV000053163]	Chr22:22703701..24669609 [GRCh38] Chr22:23046186..25065576 [GRCh37] Chr22:21376186..23395576 [NCBI36] Chr22:22q11.22-11.23	uncertain significance
Single allele	duplication	Schizophrenia [RCV000754256]	Chr22:22624794..24654160 [GRCh38] Chr22:22q11.22-11.23	likely pathogenic
Single allele	deletion	Schizophrenia [RCV000754257]	Chr22:22638171..23320336 [GRCh38] Chr22:22q11.22-11.23	likely pathogenic

Additional Information

External Database Links

More on IGLV2-14
	Alliance Gene
	NCBI Gene
	Ensembl Gene
	JBrowse: hg19 hg38
	HGNC Report
	NCBI Genome Data Viewer

CRRD Object Information
CRRD ID:	1352679
Created:	2005-03-08
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