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Variant (rsID / SNP)

rs730880629

MYBPC3

rs730880629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,368,981. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYBPC3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:47368981
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
Allele change
Nonsense_K301X

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Primary familial hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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