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Variant : CV315359 (NM_001244735.1(TMEM126A):c.-256C>T) Homo sapiens

Symbol: CV315359
Name: NM_001244735.1(TMEM126A):c.-256C>T
Condition: Optic Atrophy, Recessive [RCV000286799]
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.5040C>T
NC_000011.10:g.85647958C>T
NC_000011.9:g.85359002C>T
NM_001244735.1:c.-256C>T
NG_017157.2:g.5040C>T
NM_032273.3:c.-139C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,647,958 - 85,647,958CLINVAR
GRCh371185,359,002 - 85,359,002CLINVAR
Cytogenetic Map1111q14.1CLINVAR



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11601971
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



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