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Variant : CV20123 (NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)) Homo sapiens

Symbol: CV20123
Name: NM_015560.2(OPA1):c.869G>A (p.Arg290Gln)
Condition: Dominant hereditary optic atrophy [RCV000005389]|not provided [RCV000081771]|not provided [RCV000790668]
Clinical Significance: pathogenic
Last Evaluated: 01/06/2016
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): LRG_337t2:c.1034G>A
LRG_337t1:c.869G>A
NM_130837.2:c.1034G>A
NM_015560.2:c.869G>A
LRG_337:g.49137G>A
NG_011605.1:g.49137G>A
NC_000003.12:g.193637280G>A
NC_000003.11:g.193355069G>A
LRG_337p1:p.Arg290Gln
LRG_337p2:p.Arg345Gln
NP_056375.2:p.Arg290Gln
NP_570850.2:p.Arg345Gln
O60313:p.Arg290Gln
NM_001354664.2:c.497G>A
NM_001354663.2:c.500G>A
NM_130831.3:c.761G>A
NM_130832.3:c.815G>A
NM_130833.2:c.872G>A
NM_130834.3:c.923G>A
NM_130835.2:c.926G>A
NM_130836.3:c.980G>A
NP_001341593.1:p.Arg166Gln
NP_001341592.1:p.Arg167Gln
NP_570844.1:p.Arg254Gln
NP_570845.1:p.Arg272Gln
NP_056375.2:p.Arg290Gln
NP_570846.1:p.Arg291Gln
NP_570847.2:p.Arg308Gln
NP_570848.1:p.Arg309Gln
NP_570849.2:p.Arg327Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,637,280 - 193,637,280CLINVAR
GRCh373193,355,069 - 193,355,069CLINVAR
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: 8558463
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.