Variant (rsID / SNP)
rs119462982
rs119462982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMT1. Location: chromosome 9, position 134,385,188. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:134385188
- Cytoband
- 9q34.13
- HGVS
- NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2K|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|Abnormality of the nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.