Variant (rsID / SNP)
rs150396398
rs150396398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RYR1. Location: chromosome 19, position 39,057,626. Clinical significance in the table: Benign.
Reference-table entries
RYR1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:39057626
- Cytoband
- 19q13.2
- HGVS
- NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
- Allele change
- Missense_D4500H
Associated conditions / phenotypes
Myopathy, progressive axial with cataracts|Malignant hyperthermia, susceptibility to, 1|Malignant hyperthermia of anesthesia|EMG: myopathic abnormalities|Generalized muscle weakness|Congenital muscular dystrophy|Congenital dislocation of hip|RYR1-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.