rs132630303

Orientation

plus

Stabilized

plus

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

Make rs132630303(A;G)

Make rs132630303(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150657957

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs132630303
dbSNP (classic)	rs132630303
ClinGen	rs132630303
ebi	rs132630303
HLI	rs132630303
Exac	rs132630303
Gnomad	rs132630303
Varsome	rs132630303
LitVar	rs132630303
Map	rs132630303
PheGenI	rs132630303
Biobank	rs132630303
1000 genomes	rs132630303
hgdp	rs132630303
ensembl	rs132630303
geneview	rs132630303
scholar	rs132630303
google	rs132630303
pharmgkb	rs132630303
gwascentral	rs132630303
openSNP	rs132630303
23andMe	rs132630303
SNPshot	rs132630303
SNPdbe	rs132630303
MSV3d	rs132630303
GWAS Ctlg	rs132630303

Max Magnitude

0

OMIM	300415
Desc
Variant	0002
Related	also

ClinVar
Risk	rs132630303(G;G)
Alt	rs132630303(G;G)
Reference	Rs132630303(A;A)
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.149826430A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011803.3,