Variant (rsID / SNP)

rs1962519

rs1962519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYOM1. Location: chromosome 18, position 3,188,976. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYOM1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:3188976
Cytoband: 18p11.31
HGVS: NM_003803.4(MYOM1):c.541T>C (p.Ser181Pro)
Allele change: Missense_S181P

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.