rs132630304

Orientation

plus

Stabilized

plus

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

Make rs132630304(C;T)

Make rs132630304(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150598660

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs132630304
dbSNP (classic)	rs132630304
ClinGen	rs132630304
ebi	rs132630304
HLI	rs132630304
Exac	rs132630304
Gnomad	rs132630304
Varsome	rs132630304
LitVar	rs132630304
Map	rs132630304
PheGenI	rs132630304
Biobank	rs132630304
1000 genomes	rs132630304
hgdp	rs132630304
ensembl	rs132630304
geneview	rs132630304
scholar	rs132630304
google	rs132630304
pharmgkb	rs132630304
gwascentral	rs132630304
openSNP	rs132630304
23andMe	rs132630304
SNPshot	rs132630304
SNPdbe	rs132630304
MSV3d	rs132630304
GWAS Ctlg	rs132630304

Max Magnitude

0

OMIM	300415
Desc
Variant	0003
Related	also

ClinVar
Risk	rs132630304(G;G) rs132630304(T;T)
Alt	rs132630304(G;G) rs132630304(T;T)
Reference	Rs132630304(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.149767124C>G; NC_000023.10:g.149767124C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000146433.1, RCV000011804.5,