Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs397516080

MYBPC3

rs397516080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,368,190. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYBPC3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
Deletion
Chromosome / position
11:47368190
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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