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Variant : CV492272 (NM_015560.2(OPA1):c.1224dup (p.Gly409fs)) Homo sapiens

Symbol: CV492272
Name: NM_015560.2(OPA1):c.1224dup (p.Gly409fs)
Condition: Dominant hereditary optic atrophy [RCV000597597]
Clinical Significance: pathogenic
Last Evaluated: 03/22/2017
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: duplication (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_337:g.55396dup
LRG_337t1:c.1224dup
LRG_337t2:c.1389dup
NM_015560.2:c.1224dup
NM_130837.2:c.1389dup
NG_011605.1:g.55396dup
NC_000003.12:g.193643539dup
NC_000003.11:g.193361328dup
NM_130831.3:c.1116dup
NM_001354663.2:c.855dup
NM_130832.3:c.1170dup
NM_130833.2:c.1227dup
NM_130834.3:c.1278dup
NM_130835.2:c.1281dup
NM_130836.3:c.1335dup
NM_001354664.2:c.852dup
LRG_337p1:p.Gly409fs
LRG_337p2:p.Gly464fs
NP_001341593.1:p.Gly285fs
NP_001341592.1:p.Gly286fs
NP_570845.1:p.Gly391fs
NP_056375.2:p.Gly409fs
NP_570846.1:p.Gly410fs
NP_570847.2:p.Gly427fs
NP_570848.1:p.Gly428fs
NP_570849.2:p.Gly446fs
NP_570844.1:p.Gly373fs
NP_570850.2:p.Gly464fs
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,643,539 - 193,643,539CLINVAR
GRCh373193,361,328 - 193,361,328CLINVAR
Cytogenetic Map33q29CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13518733
Created: 2018-04-10
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.