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Variant : CV101607 (NM_015560.2(OPA1):c.1352del (p.Leu451fs)) Homo sapiens

Symbol: CV101607
Name: NM_015560.2(OPA1):c.1352del (p.Leu451fs)
Condition: Dominant hereditary optic atrophy [RCV000174779]|not provided [RCV000081750]
Clinical Significance: pathogenic
Last Evaluated: 01/25/2013
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: OPA1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_130832.3:c.1298del
NC_000003.12:g.193644014del
NM_015560.2:c.1352delT
LRG_337t1:c.1352del
LRG_337:g.55871del
LRG_337t2:c.1517del
NM_130831.3:c.1244del
NM_130833.2:c.1355del
NM_130834.3:c.1406del
NM_130836.3:c.1463del
NM_130837.2:c.1517del
NM_001354664.2:c.980del
NM_015560.2:c.1352del
NM_130835.2:c.1409del
NM_001354663.2:c.983del
NG_011605.1:g.55871del
NC_000003.11:g.193361803del
LRG_337p1:p.Leu451fs
LRG_337p2:p.Leu506fs
NP_001341593.1:p.Leu327fs
NP_001341592.1:p.Leu328fs
NP_570844.1:p.Leu415fs
NP_570849.2:p.Leu488fs
NP_570850.2:p.Leu506fs
NP_570845.1:p.Leu433fs
NP_056375.2:p.Leu451fs
NP_570846.1:p.Leu452fs
NP_570847.2:p.Leu469fs
NP_570848.1:p.Leu470fs
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,644,014 - 193,644,014CLINVAR
GRCh373193,361,803 - 193,361,803CLINVAR
Cytogenetic Map33q29CLINVAR
Age Of Onset: childhood



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642623
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.