rs132630307

Orientation

plus

Stabilized

plus

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

Make rs132630307(A;A)

Make rs132630307(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150638967

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs132630307
dbSNP (classic)	rs132630307
ClinGen	rs132630307
ebi	rs132630307
HLI	rs132630307
Exac	rs132630307
Gnomad	rs132630307
Varsome	rs132630307
LitVar	rs132630307
Map	rs132630307
PheGenI	rs132630307
Biobank	rs132630307
1000 genomes	rs132630307
hgdp	rs132630307
ensembl	rs132630307
geneview	rs132630307
scholar	rs132630307
google	rs132630307
pharmgkb	rs132630307
gwascentral	rs132630307
openSNP	rs132630307
23andMe	rs132630307
SNPshot	rs132630307
SNPdbe	rs132630307
MSV3d	rs132630307
GWAS Ctlg	rs132630307

Max Magnitude

0

OMIM	300415
Desc
Variant	0010
Related	also

ClinVar
Risk	rs132630307(A;A)
Alt	rs132630307(A;A)
Reference	Rs132630307(G;G)
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.149807440G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011811.5,