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Variant : CV490011 (NM_032273.4(TMEM126A):c.367A>G (p.Ile123Val)) Homo sapiens

Symbol: CV490011
Name: NM_032273.4(TMEM126A):c.367A>G (p.Ile123Val)
Condition: not specified [RCV000593536]
Clinical Significance: uncertain significance
Last Evaluated: 09/30/2018
Review Status: criteria provided, multiple submitters, no conflicts|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.12762A>G
NC_000011.10:g.85655680A>G
NC_000011.9:g.85366724A>G
NP_115649.1:p.Ile123Val
NM_001244735.1:c.157A>G
NM_032273.4:c.367A>G
NG_017157.2:g.12762A>G
NP_001231664.1:p.Ile53Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,655,680 - 85,655,680CLINVAR
GRCh371185,366,724 - 85,366,724CLINVAR
Cytogenetic Map1111q14.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13523867
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2020-03-17
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.