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Variant : CV208987 (NM_198270.4(NHS):c.3988G>A (p.Asp1330Asn)) Homo sapiens

Symbol: CV208987
Name: NM_198270.4(NHS):c.3988G>A (p.Asp1330Asn)
Condition: History of neurodevelopmental disorder [RCV000719416]|Neurodevelopmental [RCV000719416]|not specified [RCV000193140]
Clinical Significance: benign|likely benign
Last Evaluated: 10/28/2016
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001291868.2:c.3457G>A
NM_001136024.4:c.3520G>A
NM_198270.4:c.3988G>A
NM_001291867.2:c.4051G>A
NP_001278797.1:p.Asp1153Asn
NP_001129496.1:p.Asp1174Asn
NP_001278796.1:p.Asp1351Asn
NG_011553.2:g.357738G>A
NC_000023.11:g.17728157G>A
NC_000023.10:g.17746277G>A
NM_198270.2:c.3988G>A
NP_938011.1:p.Asp1330Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,157 - 17,728,157CLINVAR
GRCh37X17,746,277 - 17,746,277CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10403684
Created: 2015-11-10
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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