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Variant : CV193726 (NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)) Homo sapiens

Symbol: CV193726
Name: NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)
Condition: Optic Atrophy, Recessive [RCV000401117]|not provided [RCV000890740]|not specified [RCV000177387]
Clinical Significance: benign|uncertain significance
Last Evaluated: 12/05/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
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.11212A>G
NC_000011.10:g.85654130A>G
NC_000011.9:g.85365174A>G
NP_115649.1:p.Ser52Gly
NM_001244735.1:c.-57A>G
NM_032273.4:c.154A>G
NG_017157.2:g.11212A>G
NM_032273.3:c.154A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,654,130 - 85,654,130CLINVAR
GRCh371185,365,174 - 85,365,174CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10051649
Created: 2015-07-14
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.