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Variant : CV581044 (NM_198270.4(NHS):c.350C>T (p.Ala117Val)) Homo sapiens

Symbol: CV581044
Name: NM_198270.4(NHS):c.350C>T (p.Ala117Val)
Condition: History of neurodevelopmental disorder [RCV000717365]|Neurodevelopmental [RCV000717365]
Clinical Significance: uncertain significance
Last Evaluated: 11/11/2016
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): NG_011553.2:g.5688C>T
NC_000023.11:g.17376107C>T
NC_000023.10:g.17394230C>T
NM_198270.2:c.350C>T
NP_938011.1:p.Ala117Val
NM_001291867.2:c.350C>T
NM_198270.4:c.350C>T
NP_001278796.1:p.Ala117Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,107 - 17,376,107CLINVAR
GRCh37X17,394,230 - 17,394,230CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829091
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.