X:149767053-149767053 T > G

Classification

Category 1
CMH MAF 1 / 13810 samples (0.00724%)
0 het., 1 hom. (0%)
2 / 27620 total alleles (0.00724%)

gene: MTM1 synonym(s): CNM, MTMX, XLMTM, MTM1, ENSG00000171100

OMIM
OMIM:300415: MTM1 (X-linked recessive inheritance)
OMIM:310400: Myotubular myopathy, X-linked

NM_000252.2 [intron]
hgvs_c: NM_000252.2:c.137-3T>G
splice impact: polypyrimidine_tract
protein sequence: NP_000243.1

rs878853069

235566
clinvar_significance = Likely_pathogenic