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Variant (rsID / SNP)

rs387906397

MYBPC3

rs387906397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,354,743. 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
11:47354743
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3330+2T>G
Allele change
Silent

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Inborn genetic diseases|Hypertrophic cardiomyopathy|Cardiomyopathy|MYBPC3-Related Disorders

Public references

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