Variant (rsID / SNP)

rs727504234

rs727504234 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,369,209. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYBPC3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:47369209
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
Allele change: Missense_R282W

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|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.