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Variant : CV211011 (NM_015560.2(OPA1):c.2819-4A>G) Homo sapiens

Symbol: CV211011
Name: NM_015560.2(OPA1):c.2819-4A>G
Condition: Optic Atrophy, Dominant [RCV000366930]|not specified [RCV000197763]
Clinical Significance: benign|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_337t1:c.2819-4A>G
LRG_337t2:c.2984-4A>G
NM_015560.2:c.2819-4A>G
NM_130837.2:c.2984-4A>G
LRG_337:g.103916A>G
NG_011605.1:g.103916A>G
NC_000003.12:g.193692059A>G
NC_000003.11:g.193409848A>G
NM_001354664.2:c.2447-4A>G
NM_001354663.2:c.2450-4A>G
NM_130831.3:c.2711-4A>G
NM_130835.2:c.2876-4A>G
NM_130836.3:c.2930-4A>G
NM_130832.3:c.2765-4A>G
NM_130833.2:c.2822-4A>G
NM_130834.3:c.2873-4A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh383193,692,059 - 193,692,059CLINVAR
GRCh373193,409,848 - 193,409,848CLINVAR
Cytogenetic Map33q29CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10410236
Created: 2015-11-10
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.