Variant (rsID / SNP)

rs587783772

rs587783772 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.1262G>A (p.Arg421Gln)
Allele change: Missense_R421Q

Associated conditions / phenotypes

Severe X-linked myotubular myopathy|Spastic paraplegia

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.