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Variant (rsID / SNP)

rs119462985

POMT1

rs119462985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,394,332. Clinical significance in the table: Pathogenic.

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Reference-table entries

POMT1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:134394332
Cytoband
9q34.13
HGVS
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)
Allele change
Silent

Associated conditions / phenotypes

Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

Public references

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