Variant (rsID / SNP)
rs74374973
rs74374973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMGNT1, TSPAN1. Location: chromosome 1, position 46,655,645. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:46655645
- Cytoband
- 1p34.1
- HGVS
- NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
- Allele change
- Missense_D556N
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscle eye brain disease|Autosomal recessive limb-girdle muscular dystrophy type 2O|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3|Congenital Muscular Dystrophy, alpha-dystroglycan related|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3|Retinitis pigmentosa 76|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.