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Variant : CV290533 (NM_015560.2(OPA1):c.871-9T>C) Homo sapiens

Symbol: CV290533
Name: NM_015560.2(OPA1):c.871-9T>C
Condition: Optic Atrophy, Dominant [RCV000330155]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
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_337t2:c.1036-9T>C
LRG_337t1:c.871-9T>C
NM_130837.2:c.1036-9T>C
NM_015560.2:c.871-9T>C
LRG_337:g.49800T>C
NG_011605.1:g.49800T>C
NC_000003.12:g.193637943T>C
NC_000003.11:g.193355732T>C
NM_001354664.2:c.499-9T>C
NM_001354663.2:c.502-9T>C
NM_130831.3:c.763-9T>C
NM_130832.3:c.817-9T>C
NM_130833.2:c.874-9T>C
NM_130834.3:c.925-9T>C
NM_130835.2:c.928-9T>C
NM_130836.3:c.982-9T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,637,943 - 193,637,943CLINVAR
GRCh373193,355,732 - 193,355,732CLINVAR
Cytogenetic Map33q29CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11591540
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.