Variant (rsID / SNP)
rs118192174
rs118192174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 38,990,601. Clinical significance in the table: Pathogenic.
Reference-table entries
RYR1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:38990601
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
- Allele change
- Missense_M2423K
Associated conditions / phenotypes
Congenital multicore myopathy with external ophthalmoplegia|Clubfoot|EMG abnormality|Lower limb amyotrophy|Congenital myopathy with fiber type disproportion|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.