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Variant (rsID / SNP)

rs3218719

MYBPC3

rs3218719 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,371,578. 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
11:47371578
Cytoband
11p11.2
HGVS
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=)
Allele change
Synonymous_G164G

Associated conditions / phenotypes

Hypertrophic cardiomyopathy|Cardiovascular phenotype|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.