Variant (rsID / SNP)
rs28940869
rs28940869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,658,069. 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
- 1:46658069
- Cytoband
- 1p34.1
- HGVS
- NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)
- Allele change
- Missense_R442C
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2O|Retinitis pigmentosa 76|Muscle eye brain disease|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.