rs757043077

Orientation

plus

Stabilized

plus

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

Make rs757043077(G;T)

Make rs757043077(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

13808873

Gene

NDUFAF5

is a	snp
is	mentioned by
dbSNP	rs757043077
dbSNP (classic)	rs757043077
ClinGen	rs757043077
ebi	rs757043077
HLI	rs757043077
Exac	rs757043077
Gnomad	rs757043077
Varsome	rs757043077
LitVar	rs757043077
Map	rs757043077
PheGenI	rs757043077
Biobank	rs757043077
1000 genomes	rs757043077
hgdp	rs757043077
ensembl	rs757043077
geneview	rs757043077
scholar	rs757043077
google	rs757043077
pharmgkb	rs757043077
gwascentral	rs757043077
openSNP	rs757043077
23andMe	rs757043077
SNPshot	rs757043077
SNPdbe	rs757043077
MSV3d	rs757043077
GWAS Ctlg	rs757043077

Max Magnitude

0

aka c.749G>T (p.Gly250Val)

ClinVar
Risk	rs757043077(T;T)
Alt	rs757043077(T;T)
Reference	Rs757043077(G;G)
Significance	Pathogenic
Disease	Leigh syndrome not provided Mitochondrial complex I deficiency
Variation	info
Gene	NDUFAF5
CLNDBN	Leigh syndrome not provided Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000020.10:g.13789519G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412492.1, RCV000431261.1, RCV000477759.1,