rs80356540

Orientation

plus

Stabilized

plus

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

Make rs80356540(A;G)

Make rs80356540(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

100990474

Gene	C10orf2, TWNK

is a	snp
is	mentioned by
dbSNP	rs80356540
dbSNP (classic)	rs80356540
ClinGen	rs80356540
ebi	rs80356540
HLI	rs80356540
Exac	rs80356540
Gnomad	rs80356540
Varsome	rs80356540
LitVar	rs80356540
Map	rs80356540
PheGenI	rs80356540
Biobank	rs80356540
1000 genomes	rs80356540
hgdp	rs80356540
ensembl	rs80356540
geneview	rs80356540
scholar	rs80356540
google	rs80356540
pharmgkb	rs80356540
gwascentral	rs80356540
openSNP	rs80356540
23andMe	rs80356540
SNPshot	rs80356540
SNPdbe	rs80356540
MSV3d	rs80356540
GWAS Ctlg	rs80356540

Max Magnitude

0

OMIM	606075
Desc
Variant	0012
Related	also

ClinVar
Risk	rs80356540(G;G)
Alt	rs80356540(G;G)
Reference	Rs80356540(A;A)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Variation	info
Gene	C10orf2
CLNDBN	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) not provided
Reversed	0
HGVS	NC_000010.10:g.102750231A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020865.5, RCV000199894.3,

[PMID 16135556] Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

[PMID 17921179] Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.