rs201431517

Orientation

plus

Stabilized

plus

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

Make rs201431517(A;A)

Make rs201431517(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

65021533

Gene

MTFMT

is a	snp
is	mentioned by
dbSNP	rs201431517
dbSNP (classic)	rs201431517
ClinGen	rs201431517
ebi	rs201431517
HLI	rs201431517
Exac	rs201431517
Gnomad	rs201431517
Varsome	rs201431517
LitVar	rs201431517
Map	rs201431517
PheGenI	rs201431517
Biobank	rs201431517
1000 genomes	rs201431517
hgdp	rs201431517
ensembl	rs201431517
geneview	rs201431517
scholar	rs201431517
google	rs201431517
pharmgkb	rs201431517
gwascentral	rs201431517
openSNP	rs201431517
23andMe	rs201431517
SNPshot	rs201431517
SNPdbe	rs201431517
MSV3d	rs201431517
GWAS Ctlg	rs201431517

Max Magnitude

0

ClinVar
Risk	rs201431517(A;A)
Alt	rs201431517(A;A)
Reference	Rs201431517(G;G)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 15 Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided Abnormal facial shape Decreased activity of cytochrome C oxidase in muscle tissue Decreased activity of mitochondrial complex I Inability to walk by childhood/adolescence Poor speech Short stature
Variation	info
Gene	MTFMT
CLNDBN	Combined oxidative phosphorylation deficiency 15 Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome not provided Abnormal facial shape Decreased activity of cytochrome C oxidase in muscle tissue Decreased activity of mitochondrial complex I Inability to walk by childhood/adolescence Poor speech Short stature
Reversed	0
HGVS	NC_000015.9:g.65313871G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033047.6, RCV000033048.5, RCV000190888.1, RCV000320667.2, RCV000415235.1,