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Variant : CV254360 (NM_032273.4(TMEM126A):c.395+10A>G) Homo sapiens

Symbol: CV254360
Name: NM_032273.4(TMEM126A):c.395+10A>G
Condition: Optic Atrophy, Recessive [RCV000389999]|not provided [RCV000676595]|not specified [RCV000250500]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TMEM126A  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_017157.1:g.12800A>G
NC_000011.10:g.85655718A>G
NC_000011.9:g.85366762A>G
NM_032273.4:c.395+10A>G
NM_032273.3:c.395+10A>G
NM_001244735.1:c.185+10A>G
NG_017157.2:g.12800A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,655,718 - 85,655,718CLINVAR
GRCh371185,366,762 - 85,366,762CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11549499
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-24
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.