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Variant : CV269750 (NM_130837.2(OPA1):c.604_605del (p.Leu202fs)) Homo sapiens

Symbol: CV269750
Name: NM_130837.2(OPA1):c.604_605del (p.Leu202fs)
Condition: not specified [RCV000369834]
Clinical Significance: uncertain significance
Last Evaluated: 08/30/2018
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NM_015560.2:c.556+546_556+547del
LRG_337t1:c.556+546_556+547del
LRG_337t2:c.604_605del
LRG_337:g.29688_29689del
NM_130831.3:c.449-1038_449-1037del
NM_130833.2:c.449-1038_449-1037del
NM_130832.3:c.496_497del
NM_130835.2:c.496_497del
NM_130836.3:c.556+546_556+547del
NM_130837.2:c.604_605del
NM_001354663.2:c.77-1038_77-1037del
NG_011605.1:g.29688_29689del
NC_000003.12:g.193617831_193617832del
NC_000003.11:g.193335620_193335621del
LRG_337p2:p.Leu202fs
NP_570845.1:p.Leu166fs
NP_570848.1:p.Leu166fs
NP_570847.2:p.Leu202fs
NP_570850.2:p.Leu202fs
NM_001354664.2:c.184+546_184+547del
NM_130834.3:c.604_605del
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,617,831 - 193,617,832CLINVAR
GRCh373193,335,620 - 193,335,621CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11642150
Created: 2017-01-11
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.