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Variant (rsID / SNP)

rs11570076

MYBPC3

rs11570076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,365,122. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYBPC3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:47365122
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp)
Allele change
Missense_R382W

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy|Arrhythmogenic right ventricular dysplasia 1

Public references

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