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Variant : CV264136 (NM_015560.2(OPA1):c.2708-2A>G) Homo sapiens

Symbol: CV264136
Name: NM_015560.2(OPA1):c.2708-2A>G
Condition: not provided [RCV000366451]
Clinical Significance: pathogenic
Last Evaluated: 12/10/2015
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.2708-2A>G
LRG_337t2:c.2873-2A>G
NM_015560.2:c.2708-2A>G
NM_130837.2:c.2873-2A>G
LRG_337:g.79025A>G
NG_011605.1:g.79025A>G
NC_000003.12:g.193667168A>G
NC_000003.11:g.193384957A>G
NM_001354664.2:c.2336-2A>G
NM_001354663.2:c.2339-2A>G
NM_130831.3:c.2600-2A>G
NM_130832.3:c.2654-2A>G
NM_130833.2:c.2711-2A>G
NM_130834.3:c.2762-2A>G
NM_130835.2:c.2765-2A>G
NM_130836.3:c.2819-2A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,667,168 - 193,667,168CLINVAR
GRCh373193,384,957 - 193,384,957CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11633775
Created: 2017-01-11
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.