rs132630306

Orientation

plus

Stabilized

plus

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

Make rs132630306(C;T)

Make rs132630306(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150641410

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs132630306
dbSNP (classic)	rs132630306
ClinGen	rs132630306
ebi	rs132630306
HLI	rs132630306
Exac	rs132630306
Gnomad	rs132630306
Varsome	rs132630306
LitVar	rs132630306
Map	rs132630306
PheGenI	rs132630306
Biobank	rs132630306
1000 genomes	rs132630306
hgdp	rs132630306
ensembl	rs132630306
geneview	rs132630306
scholar	rs132630306
google	rs132630306
pharmgkb	rs132630306
gwascentral	rs132630306
openSNP	rs132630306
23andMe	rs132630306
SNPshot	rs132630306
SNPdbe	rs132630306
MSV3d	rs132630306
GWAS Ctlg	rs132630306

Max Magnitude

0

OMIM	300415
Desc
Variant	0008
Related	also

ClinVar
Risk	rs132630306(T;T)
Alt	rs132630306(T;T)
Reference	Rs132630306(C;C)
Significance	Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149809883C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011809.4,