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Variant (rsID / SNP)

rs193922384

MYBPC3

rs193922384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,353,677. 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
Duplication
Chromosome / position
11:47353677
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Cardiomyopathy

Public references

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