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Variant : CV177401 (NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)) Homo sapiens

Symbol: CV177401
Name: NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)
Condition: not specified [RCV000154005]
Clinical Significance: uncertain significance
Last Evaluated: 04/27/2014
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.12780C>G
NC_000011.10:g.85655698C>G
NC_000011.9:g.85366742C>G
NP_115649.1:p.Leu129Val
NG_017157.2:g.12780C>G
NP_115649.1:p.Leu129Val
NP_001231664.1:p.Leu59Val
NM_001244735.1:c.175C>G
NM_032273.4:c.385C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,655,698 - 85,655,698CLINVAR
GRCh371185,366,742 - 85,366,742CLINVAR
Cytogenetic Map1111q14.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9693374
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2020-03-24
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.