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

Variant : CV141373 (NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)) Homo sapiens

Symbol: CV141373
Name: NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)
Condition: Optic Atrophy, Recessive [RCV000294872]|Optic atrophy 7 [RCV000625489]|not provided [RCV000676593]|not specified [RCV000125527]
Clinical Significance: benign|likely benign|uncertain significance
Last Evaluated: 12/13/2018
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.11249G>A
NC_000011.10:g.85654167G>A
NC_000011.9:g.85365211G>A
NP_115649.1:p.Arg64His
NM_001244735.1:c.-20G>A
Q9H061:p.Arg64His
NM_032273.4:c.191G>A
NG_017157.2:g.11249G>A
NM_032273.3:c.191G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,654,167 - 85,654,167CLINVAR
GRCh371185,365,211 - 85,365,211CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant; OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8691413
Created: 2014-07-08
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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