Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV39419 (NM_015560.2(OPA1):c.1316G>T (p.Gly439Val)) Homo sapiens

Symbol: CV39419
Name: NM_015560.2(OPA1):c.1316G>T (p.Gly439Val)
Condition: Autosomal dominant optic atrophy plus syndrome [RCV000023416]|Optic Atrophy Type 1 [RCV000023416]
Clinical Significance: pathogenic
Last Evaluated: 02/17/2012
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: literature only
HGVS Name(s): LRG_337t1:c.1316G>T
LRG_337t2:c.1481G>T
NM_015560.2:c.1316G>T
NM_130837.2:c.1481G>T
LRG_337:g.55835G>T
NG_011605.1:g.55835G>T
NC_000003.12:g.193643978G>T
NC_000003.11:g.193361767G>T
LRG_337p1:p.Gly439Val
LRG_337p2:p.Gly494Val
NP_056375.2:p.Gly439Val
NP_570850.2:p.Gly494Val
O60313:p.Gly439Val
NM_130831.3:c.1208G>T
NM_130832.3:c.1262G>T
NM_130833.2:c.1319G>T
NM_130834.3:c.1370G>T
NM_130835.2:c.1373G>T
NM_130836.3:c.1427G>T
NM_001354664.2:c.944G>T
NM_001354663.2:c.947G>T
NP_001341593.1:p.Gly315Val
NP_001341592.1:p.Gly316Val
NP_570844.1:p.Gly403Val
NP_570845.1:p.Gly421Val
NP_570846.1:p.Gly440Val
NP_570847.2:p.Gly457Val
NP_570848.1:p.Gly458Val
NP_570849.2:p.Gly476Val
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,643,978 - 193,643,978CLINVAR
GRCh373193,361,767 - 193,361,767CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: 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: 8568363
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.