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rs80356530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTT;AGTT) 0 common in clinvar
(TTAG;TTAG) 0 common in clinvar
Make rs80356530(-;-)
Make rs80356530(-;TTAG)
ReferenceGRCh38 38.1/141
Chromosome3
Position193667170
GeneOPA1
is asnp
is mentioned by
dbSNPrs80356530
ebirs80356530
HLIrs80356530
Exacrs80356530
Varsomers80356530
Maprs80356530
PheGenIrs80356530
hapmaprs80356530
1000 genomesrs80356530
hgdprs80356530
ensemblrs80356530
gopubmedrs80356530
geneviewrs80356530
scholarrs80356530
googlers80356530
pharmgkbrs80356530
gwascentralrs80356530
openSNPrs80356530
23andMers80356530
23andMe allrs80356530
SNP Nexus

SNPshotrs80356530
SNPdbers80356530
MSV3drs80356530
GWAS Ctlgrs80356530
Max Magnitude0
OMIM605290
Desc
Variant0003
Relatedalso
ClinVar
Risk
Alt
Reference Rs80356530(AGTT;AGTT)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided Abortive cerebellar ataxia
Variation info
Gene OPA1 LOC101929213
CLNDBN Dominant hereditary optic atrophy not provided Abortive cerebellar ataxia
Reversed 0
HGVS NC_000003.11:g.193384959_193384962delTTAG
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005387.6, RCV000081763.5, RCV000210745.1,


[PMID 9490303] Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.


[PMID 9917792] Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies.


[PMID 11017079] Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.


[PMID 11440989] Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.