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Variant : CV39417 (NM_015560.2(OPA1):c.1294A>G (p.Ile432Val)) Homo sapiens

Symbol: CV39417
Name: NM_015560.2(OPA1):c.1294A>G (p.Ile432Val)
Condition: Autosomal dominant optic atrophy plus syndrome [RCV000023414]|Mitochondrial diseases [RCV000508763]|Optic Atrophy Type 1 [RCV000023414]
Clinical Significance: pathogenic
Last Evaluated: 04/07/2017
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing|literature only
HGVS Name(s): LRG_337t1:c.1294A>G
LRG_337t2:c.1459A>G
NM_130837.2:c.1459A>G
LRG_337:g.55466A>G
NG_011605.1:g.55466A>G
NC_000003.12:g.193643609A>G
NC_000003.11:g.193361398A>G
LRG_337p1:p.Ile432Val
LRG_337p2:p.Ile487Val
NP_056375.2:p.Ile432Val
NP_570850.2:p.Ile487Val
NM_015560.2:c.1294A>G
NM_130831.3:c.1186A>G
NM_130832.3:c.1240A>G
NM_130833.2:c.1297A>G
NM_130835.2:c.1351A>G
NM_130836.3:c.1405A>G
NM_001354664.2:c.922A>G
NM_001354663.2:c.925A>G
NP_001341593.1:p.Ile308Val
NP_001341592.1:p.Ile309Val
NP_570844.1:p.Ile396Val
NP_570845.1:p.Ile414Val
NP_570846.1:p.Ile433Val
NP_570848.1:p.Ile451Val
NP_570849.2:p.Ile469Val
NM_130834.3:c.1348A>G
NP_570847.2:p.Ile450Val
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,643,609 - 193,643,609CLINVAR
GRCh373193,361,398 - 193,361,398CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: Mitochondrial disease; Optic Atrophy Type 1; OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8568361
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.