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Variant (rsID / SNP)

rs147601415

POMT1

rs147601415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,397,446. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POMT1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
9:134397446
Cytoband
9q34.13
HGVS
NM_001077365.2(POMT1):c.1838G>A (p.Arg613His)
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

Public references

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