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Variant (rsID / SNP)

rs61897383

MYBPC3

rs61897383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,363,612. 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
11:47363612
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=)
Allele change
Synonymous_R574R

Associated conditions / phenotypes

Left ventricular noncompaction 10|Hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 4

Public references

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