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Variant (rsID / SNP)

rs368770848

MYBPC3

rs368770848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,364,668. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYBPC3Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:47364668
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
Allele change
Missense_R419S

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy|Cardiomyopathy

Public references

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