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Variant : CV289802 (NM_015560.2(OPA1):c.*3147G>C) Homo sapiens

Symbol: CV289802
Name: NM_015560.2(OPA1):c.*3147G>C
Condition: Optic Atrophy, Dominant [RCV000280852]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: OPA1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_337t1:c.*3147G>C
LRG_337t2:c.*3147G>C
NM_015560.2:c.*3147G>C
NM_130837.2:c.*3147G>C
LRG_337:g.109604G>C
NG_011605.1:g.109604G>C
NC_000003.12:g.193697747G>C
NC_000003.11:g.193415536G>C
NM_130832.3:c.*3147G>C
NM_130833.2:c.*3147G>C
NM_130834.3:c.*3147G>C
NM_130835.2:c.*3147G>C
NM_130836.3:c.*3147G>C
NM_001354664.2:c.*3147G>C
NM_130831.3:c.*3147G>C
NM_001354663.2:c.*3147G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,697,747 - 193,697,747CLINVAR
GRCh373193,415,536 - 193,415,536CLINVAR
Cytogenetic Map33q29CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11648257
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.