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Variant : CV580912 (NM_198270.4(NHS):c.3980G>A (p.Arg1327His)) Homo sapiens

Symbol: CV580912
Name: NM_198270.4(NHS):c.3980G>A (p.Arg1327His)
Condition: History of neurodevelopmental disorder [RCV000718204]|Neurodevelopmental [RCV000718204]
Clinical Significance: likely benign
Last Evaluated: 04/11/2017
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.357730G>A
NC_000023.11:g.17728149G>A
NC_000023.10:g.17746269G>A
NM_198270.2:c.3980G>A
NP_938011.1:p.Arg1327His
NM_001291868.2:c.3449G>A
NM_001136024.4:c.3512G>A
NM_198270.4:c.3980G>A
NM_001291867.2:c.4043G>A
NP_001278797.1:p.Arg1150His
NP_001129496.1:p.Arg1171His
NP_001278796.1:p.Arg1348His
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,728,149 - 17,728,149CLINVAR
GRCh37X17,746,269 - 17,746,269CLINVAR
Cytogenetic MapXXp22.13CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13829452
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.