Variant (rsID / SNP)

rs727504248

rs727504248 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,363,704. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYBPC3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:47363704
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)

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.