Variant (rsID / SNP)

rs119462986

rs119462986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,396,738. 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: 9:134396738
Cytoband: 9q34.13
HGVS: NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)
Allele change: Silent

Associated conditions / phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1

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.