Variant (rsID / SNP)
rs763944786
rs763944786 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,959,759. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RYR1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38959759
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)
- Allele change
- Missense_R1179W
Associated conditions / phenotypes
Scoliosis|Progressive distal muscle weakness|Delayed gross motor development|Pelvic girdle muscle weakness|Proximal muscle weakness|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.