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Variant : CV580731 (NM_198270.4(NHS):c.333_335GGC[7] (p.Ala117dup)) Homo sapiens

Symbol: CV580731
Name: NM_198270.4(NHS):c.333_335GGC[7] (p.Ala117dup)
Condition: History of neurodevelopmental disorder [RCV000718335]|Neurodevelopmental [RCV000718335]
Clinical Significance: likely benign
Last Evaluated: 03/28/2017
Review Status: criteria provided, single submitter
Related Genes: NHS  
Variant Type: microsatellite (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: clinical testing
HGVS Name(s): NM_198270.2:c.348_350dupGGC
NM_001291867.2:c.333_335GGC[7]
NM_198270.4:c.333_335GGC[7]
NC_000023.11:g.17376090_17376092GGC[7]
NC_000023.10:g.17394213_17394215GGC[7]
NP_001278796.1:p.Ala117dup
NP_938011.1:p.Ala117dup
NG_011553.2:g.5671_5673GGC[7]
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,105 - 17,376,107CLINVAR
GRCh37X17,394,228 - 17,394,230CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829520
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.