Variant (rsID / SNP)

rs730880337

rs730880337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,354,519. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYBPC3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 11:47354519
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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