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Variant : CV580732 (NM_198270.4(NHS):c.1406G>T (p.Gly469Val)) Homo sapiens

Symbol: CV580732
Name: NM_198270.4(NHS):c.1406G>T (p.Gly469Val)
Condition: History of neurodevelopmental disorder [RCV000718697]|Neurodevelopmental [RCV000718697]
Clinical Significance: uncertain significance
Last Evaluated: 05/11/2017
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): NG_011553.2:g.355156G>T
NC_000023.10:g.17743695G>T
NM_198270.2:c.1406G>T
NC_000023.11:g.17725575G>T
NP_001129496.1:p.Gly313Val
NP_001278796.1:p.Gly490Val
NM_001291867.2:c.1469G>T
NM_001136024.4:c.938G>T
NP_001278797.1:p.Gly292Val
NM_198270.4:c.1406G>T
NM_001291868.2:c.875G>T
NP_938011.1:p.Gly469Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,725,575 - 17,725,575CLINVAR
GRCh37X17,743,695 - 17,743,695CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829680
Created: 2018-12-06
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.