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Variant (rsID / SNP)

rs3729952

MYBPC3

rs3729952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,359,046. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYBPC3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:47359046
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
Allele change
Missense_A833V

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Primary familial dilated cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4

Public references

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