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Variant : CV20120 (NM_015560.2(OPA1):c.985-1G>A) Homo sapiens

Symbol: CV20120
Name: NM_015560.2(OPA1):c.985-1G>A
Condition: Dominant hereditary optic atrophy [RCV000005386]|not provided [RCV000518060]
Clinical Significance: pathogenic
Last Evaluated: 10/05/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Nucleotide Change: ivs9as, g-a, -1
Evidence: clinical testing|literature only
HGVS Name(s): LRG_337t2:c.1150-1G>A
LRG_337t1:c.985-1G>A
NM_130837.2:c.1150-1G>A
NM_015560.2:c.985-1G>A
LRG_337:g.54621G>A
NG_011605.1:g.54621G>A
NC_000003.12:g.193642764G>A
NC_000003.11:g.193360553G>A
NM_130836.3:c.1096-1G>A
NM_130834.3:c.1039-1G>A
NM_001354664.2:c.613-1G>A
NM_001354663.2:c.616-1G>A
NM_130832.3:c.931-1G>A
NM_130833.2:c.988-1G>A
NM_130835.2:c.1042-1G>A
NM_130831.3:c.877-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,642,764 - 193,642,764CLINVAR
GRCh373193,360,553 - 193,360,553CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: Optic Atrophy Type 1; Optic Atrophy, Autosomal Dominant
Age Of Onset: childhood



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8558460
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.