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

Variant : CV15449 (NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)) Homo sapiens

Symbol: CV15449
Name: NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)
Condition: Optic atrophy 7 [RCV000000438]
Clinical Significance: pathogenic
Last Evaluated: 09/26/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: utr-5|nonsense|5 prime utr variant
Evidence: literature only
HGVS Name(s): NM_001244735.1:c.-48C>T
NG_017157.1:g.11221C>T
NC_000011.10:g.85654139C>T
NC_000011.9:g.85365183C>T
NP_115649.1:p.Arg55Ter
NM_032273.4:c.163C>T
NG_017157.2:g.11221C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,654,139 - 85,654,139CLINVAR
GRCh371185,365,183 - 85,365,183CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8555617
Created: 2014-05-13
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.