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Variant (rsID / SNP)

rs397516005

MYBPC3

rs397516005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,355,117. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYBPC3Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:47355117
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter)
Allele change
Nonsense_Q1061X

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiovascular phenotype|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.