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

Variant : CV329611 (NM_001244735.1(TMEM126A):c.-259C>T) Homo sapiens

Symbol: CV329611
Name: NM_001244735.1(TMEM126A):c.-259C>T
Condition: Optic Atrophy, Recessive [RCV000378815]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.5037C>T
NC_000011.10:g.85647955C>T
NC_000011.9:g.85358999C>T
NM_001244735.1:c.-259C>T
NG_017157.2:g.5037C>T
NM_032273.3:c.-142C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,647,955 - 85,647,955CLINVAR
GRCh371185,358,999 - 85,358,999CLINVAR
Cytogenetic Map1111q14.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11661682
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.