rs80356530

plus

Geno	Mag	Summary
(AGTT;AGTT)	0	common in clinvar
(TTAG;TTAG)	0	common in clinvar

Make rs80356530(-;-)

Make rs80356530(-;TTAG)

Reference

GRCh38 38.1/141

Chromosome

3

Position

193667170

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs80356530
dbSNP (classic)	rs80356530
ClinGen	rs80356530
ebi	rs80356530
HLI	rs80356530
Exac	rs80356530
Gnomad	rs80356530
Varsome	rs80356530
LitVar	rs80356530
Map	rs80356530
PheGenI	rs80356530
Biobank	rs80356530
1000 genomes	rs80356530
hgdp	rs80356530
ensembl	rs80356530
geneview	rs80356530
scholar	rs80356530
google	rs80356530
pharmgkb	rs80356530
gwascentral	rs80356530
openSNP	rs80356530
23andMe	rs80356530
SNPshot	rs80356530
SNPdbe	rs80356530
MSV3d	rs80356530
GWAS Ctlg	rs80356530

Max Magnitude

0

aka c.2708_2711delTTAG (p.Val903Glyfs)

OMIM	605290
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80356530(-;-) Rs80356530(AGTT;AGTT)
Alt	rs80356530(-;-) Rs80356530(AGTT;AGTT)
Reference	Rs80356530(TTAG;TTAG)
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	RCV000005387.7, 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.