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Variant (rsID / SNP)

rs190765116

MYBPC3

rs190765116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,357,551. 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
11:47357551
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys)
Allele change
Missense_E872K

Associated conditions / phenotypes

Cardiovascular phenotype|Hypertrophic cardiomyopathy|Long QT syndrome|Hypertrophic cardiomyopathy|Left ventricular noncompaction 10|Hypertrophic cardiomyopathy 4|Cardiomyopathy

Public references

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