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Variant : CV192929 (NM_015560.2(OPA1):c.2276-4C>G) Homo sapiens

Symbol: CV192929
Name: NM_015560.2(OPA1):c.2276-4C>G
Condition: not specified [RCV000176414]
Clinical Significance: uncertain significance
Last Evaluated: 03/05/2015
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.2276-4C>G
LRG_337t2:c.2441-4C>G
NM_015560.2:c.2276-4C>G
NM_130837.2:c.2441-4C>G
LRG_337:g.71335C>G
NG_011605.1:g.71335C>G
NC_000003.12:g.193659478C>G
NC_000003.11:g.193377267C>G
NM_001354664.2:c.1904-4C>G
NM_001354663.2:c.1907-4C>G
NM_130831.3:c.2168-4C>G
NM_130832.3:c.2222-4C>G
NM_130833.2:c.2279-4C>G
NM_130834.3:c.2330-4C>G
NM_130836.3:c.2387-4C>G
NM_130835.2:c.2333-4C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,659,478 - 193,659,478CLINVAR
GRCh373193,377,267 - 193,377,267CLINVAR
Cytogenetic Map33q29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10051104
Created: 2015-07-14
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.