rs132630277

Orientation

plus

Stabilized

plus

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

Make rs132630277(A;A)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154420037

Gene

TAZ

is a	snp
is	mentioned by
dbSNP	rs132630277
dbSNP (classic)	rs132630277
ClinGen	rs132630277
ebi	rs132630277
HLI	rs132630277
Exac	rs132630277
Gnomad	rs132630277
Varsome	rs132630277
LitVar	rs132630277
Map	rs132630277
PheGenI	rs132630277
Biobank	rs132630277
1000 genomes	rs132630277
hgdp	rs132630277
ensembl	rs132630277
geneview	rs132630277
scholar	rs132630277
google	rs132630277
pharmgkb	rs132630277
gwascentral	rs132630277
openSNP	rs132630277
23andMe	rs132630277
SNPshot	rs132630277
SNPdbe	rs132630277
MSV3d	rs132630277
GWAS Ctlg	rs132630277

Max Magnitude

3

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

OMIM	300394
Desc
Variant	0006
Related	also

ClinVar
Risk	rs132630277(A;A)
Alt	rs132630277(A;A)
Reference	Rs132630277(G;G)
Significance	Pathogenic
Disease	3-Methylglutaconic aciduria type 2
Variation	info
Gene	TAZ
CLNDBN	3-Methylglutaconic aciduria type 2
Reversed	0
HGVS	NC_000023.10:g.153648376G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011854.13,