Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV328321 (NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)) Homo sapiens

Symbol: CV328321
Name: NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)
Condition: Optic Atrophy, Recessive [RCV000364617]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: 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.13497A>G
NC_000011.10:g.85656415A>G
NC_000011.9:g.85367459A>G
NP_115649.1:p.Met168Val
NM_001244735.1:c.292A>G
NM_032273.4:c.502A>G
NG_017157.2:g.13497A>G
NM_032273.3:c.502A>G
NP_001231664.1:p.Met98Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,656,415 - 85,656,415CLINVAR
GRCh371185,367,459 - 85,367,459CLINVAR
Cytogenetic Map1111q14.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11660178
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.