rs587776741

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	3	carrier of a Barth syndrome allele
(G;G)	0	common in clinvar

Make rs587776741(C;C)

Reference

GRCh38 38.1/142

Chromosome

X

Position

154420211

Gene

TAZ

is a	snp
is	mentioned by
dbSNP	rs587776741
dbSNP (classic)	rs587776741
ClinGen	rs587776741
ebi	rs587776741
HLI	rs587776741
Exac	rs587776741
Gnomad	rs587776741
Varsome	rs587776741
LitVar	rs587776741
Map	rs587776741
PheGenI	rs587776741
Biobank	rs587776741
1000 genomes	rs587776741
hgdp	rs587776741
ensembl	rs587776741
geneview	rs587776741
scholar	rs587776741
google	rs587776741
pharmgkb	rs587776741
gwascentral	rs587776741
openSNP	rs587776741
23andMe	rs587776741
SNPshot	rs587776741
SNPdbe	rs587776741
MSV3d	rs587776741
GWAS Ctlg	rs587776741

Max Magnitude

3

Barth syndrome, also known as 3-Methylglutaconic aciduria type 2

ClinVar
Risk	rs587776741(C;C)
Alt	rs587776741(C;C)
Reference	Rs587776741(G;G)
Significance	Pathogenic
Disease	3-Methylglutaconic aciduria type 2
Variation	info
Gene	TAZ
CLNDBN	3-Methylglutaconic aciduria type 2
Reversed	0
HGVS	NC_000023.11:g.154420211G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011861.1,