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Variant : CV20126 (NM_015560.2(OPA1):c.1354del (p.Val452fs)) Homo sapiens

Symbol: CV20126
Name: NM_015560.2(OPA1):c.1354del (p.Val452fs)
Condition: Dominant hereditary optic atrophy [RCV000005392]
Clinical Significance: pathogenic
Last Evaluated: 02/17/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: literature only
HGVS Name(s): LRG_337p2:p.Val507fs
NC_000003.12:g.193644016del
NC_000003.11:g.193361805del
LRG_337:g.55873del
LRG_337t1:c.1354del
LRG_337t2:c.1519del
NM_130831.3:c.1246del
NM_130832.3:c.1300del
NM_130833.2:c.1357del
NM_130834.3:c.1408del
NM_130835.2:c.1411del
NM_130836.3:c.1465del
NM_130837.2:c.1519del
NM_001354664.2:c.982del
NM_001354663.2:c.985del
NG_011605.1:g.55873del
LRG_337p1:p.Val452fs
NP_001341593.1:p.Val328fs
NP_001341592.1:p.Val329fs
NP_570844.1:p.Val416fs
NP_570845.1:p.Val434fs
NP_056375.2:p.Val452fs
NP_570846.1:p.Val453fs
NP_570847.2:p.Val470fs
NP_570848.1:p.Val471fs
NP_570849.2:p.Val489fs
NP_570850.2:p.Val507fs
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,644,016 - 193,644,016CLINVAR
GRCh373193,361,805 - 193,361,805CLINVAR
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: 8558466
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.