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Variant (rsID / SNP)

rs368765949

MYBPC3

rs368765949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,353,795. 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
11:47353795
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
Allele change
Nonsense_W1214X

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Left ventricular noncompaction cardiomyopathy|Primary dilated cardiomyopathy|Cardiomyopathy

Public references

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