Variant (rsID / SNP)

rs132630305

rs132630305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTM1. Clinical significance in the table: Pathogenic.

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Reference-table entries

MTM1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
Allele change: Missense_R241C

Associated conditions / phenotypes

Severe X-linked myotubular myopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.