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Variant (rsID / SNP)

rs121909378

MYBPC3

rs121909378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,354,482. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYBPC3Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:47354482
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
Allele change
Missense_V1125M

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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