Variant (rsID / SNP)

rs397516040

rs397516040 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,353,668. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYBPC3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 11:47353668
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4

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.