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

Variant : CV322214 (NM_032273.4(TMEM126A):c.-69T>A) Homo sapiens

Symbol: CV322214
Name: NM_032273.4(TMEM126A):c.-69T>A
Condition: Optic Atrophy, Recessive [RCV000320832]
Clinical Significance: benign
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.5110T>A
NC_000011.10:g.85648028T>A
NC_000011.9:g.85359072T>A
NM_032273.3:c.-69T>A
NM_032273.4:c.-69T>A
NG_017157.2:g.5110T>A
NM_001244735.1:c.-186T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,648,028 - 85,648,028CLINVAR
GRCh371185,359,072 - 85,359,072CLINVAR
Cytogenetic Map1111q14.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11605542
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



NHLBI Logo

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