rs80356543

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs80356543(A;G)

Make rs80356543(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100989165

Gene	C10orf2, MRPL43, TWNK

is a	snp
is	mentioned by
dbSNP	rs80356543
dbSNP (classic)	rs80356543
ClinGen	rs80356543
ebi	rs80356543
HLI	rs80356543
Exac	rs80356543
Gnomad	rs80356543
Varsome	rs80356543
LitVar	rs80356543
Map	rs80356543
PheGenI	rs80356543
Biobank	rs80356543
1000 genomes	rs80356543
hgdp	rs80356543
ensembl	rs80356543
geneview	rs80356543
scholar	rs80356543
google	rs80356543
pharmgkb	rs80356543
gwascentral	rs80356543
openSNP	rs80356543
23andMe	rs80356543
SNPshot	rs80356543
SNPdbe	rs80356543
MSV3d	rs80356543
GWAS Ctlg	rs80356543

Max Magnitude

0

OMIM	606075
Desc
Variant	0010
Related	also

ClinVar
Risk	rs80356543(C;C) rs80356543(G;G)
Alt	rs80356543(C;C) rs80356543(G;G)
Reference	Rs80356543(A;A)
Significance	Pathogenic
Disease	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Sensory ataxic neuropathy
Variation	info
Gene	MRPL43 C10orf2
CLNDBN	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Reversed	0
HGVS	NC_000010.10:g.102748922A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004888.6, RCV000020867.1,

[PMID 15668446] Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.