Variant (rsID / SNP)
rs200056620
rs200056620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,388,630. Clinical significance in the table: Pathogenic.
Reference-table entries
POMT1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:134388630
- Cytoband
- 9q34.13
- HGVS
- NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
- Allele change
- Silent
Associated conditions / phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Autosomal recessive limb-girdle muscular dystrophy type 2K|Walker-Warburg congenital muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1|Limb-girdle muscular dystrophy due to POMK deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.