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Variant (rsID / SNP)

rs36211723

MYBPC3

rs36211723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,360,071. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYBPC3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:47360071
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
Allele change
Missense_D770N

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 4|Hypertrophic cardiomyopathy|Cardiovascular phenotype|Hypertrophic cardiomyopathy 4|Left ventricular noncompaction 10|Conduction disorder of the heart|Left ventricular noncompaction 10|Primary familial hypertrophic cardiomyopathy

Public references

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