Variant (rsID / SNP)
rs76382984
rs76382984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOM1. Location: chromosome 18, position 3,215,131. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYOM1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:3215131
- Cytoband
- 18p11.31
- HGVS
- NM_003803.4(MYOM1):c.91C>A (p.Arg31=)
- Allele change
- Synonymous_R31R
Associated conditions / phenotypes
Hypertrophic cardiomyopathy|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
