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Variant : CV211572 (NM_032273.4(TMEM126A):c.395+5G>A) Homo sapiens

Symbol: CV211572
Name: NM_032273.4(TMEM126A):c.395+5G>A
Condition: Optic Atrophy, Recessive [RCV000352120]|not provided [RCV000962203]|not specified [RCV000198457]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 01/23/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
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.12795G>A
NC_000011.10:g.85655713G>A
NC_000011.9:g.85366757G>A
NM_001244735.1:c.185+5G>A
NM_032273.4:c.395+5G>A
NG_017157.2:g.12795G>A
NM_032273.3:c.395+5G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381185,655,713 - 85,655,713CLINVAR
GRCh371185,366,757 - 85,366,757CLINVAR
Cytogenetic Map1111q14.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10410570
Created: 2015-11-10
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.