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Variant : CV190679 (NM_198270.4(NHS):c.401G>A (p.Arg134His)) Homo sapiens

Symbol: CV190679
Name: NM_198270.4(NHS):c.401G>A (p.Arg134His)
Condition: not specified [RCV000173590]
Clinical Significance: uncertain significance
Last Evaluated: 06/01/2015
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.5739G>A
NC_000023.11:g.17376158G>A
NC_000023.10:g.17394281G>A
NP_938011.1:p.Arg134His
NM_001291867.2:c.401G>A
NM_198270.4:c.401G>A
NP_001278796.1:p.Arg134His
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,376,158 - 17,376,158CLINVAR
GRCh37X17,394,281 - 17,394,281CLINVAR
Cytogenetic MapXXp22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10049616
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-09-06
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.