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Variant : CV656100 (NM_032273.4(TMEM126A):c.402A>G (p.Gln134=)) Homo sapiens

Symbol: CV656100
Name: NM_032273.4(TMEM126A):c.402A>G (p.Gln134=)
Condition: not provided [RCV000828697]
Clinical Significance: likely benign
Last Evaluated: 05/17/2018
Review Status: criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001244735.1:c.192A>G
NC_000011.10:g.85656315A>G
NC_000011.9:g.85367359A>G
NM_032273.3:c.402A>G
NP_115649.1:p.Gln134=
NP_001231664.1:p.Gln64=
NM_032273.4:c.402A>G
NG_017157.1:g.13397A>G
NG_017157.2:g.13397A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,656,315 - 85,656,315CLINVAR
GRCh371185,367,359 - 85,367,359CLINVAR
Cytogenetic Map1111q14.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14713361
Created: 2019-09-06
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.