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Variant : CV141374 (NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)) Homo sapiens

Symbol: CV141374
Name: NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)
Condition: Optic Atrophy, Recessive [RCV000391384]|not specified [RCV000125528]
Clinical Significance: benign|uncertain significance
Last Evaluated: 06/14/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.13557T>A
NC_000011.10:g.85656475T>A
NC_000011.9:g.85367519T>A
NP_115649.1:p.Ser188Thr
p.S188T
NM_032273.4:c.562T>A
NG_017157.2:g.13557T>A
NM_032273.3:c.562T>A
NP_001231664.1:p.Ser118Thr
NM_001244735.1:c.352T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,656,475 - 85,656,475CLINVAR
GRCh371185,367,519 - 85,367,519CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8691414
Created: 2014-07-08
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.