Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138753870

MYBPC3

rs138753870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,330. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYBPC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47371330
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly)
Allele change
Missense_S217G

Associated conditions / phenotypes

Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10

Public references

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