Variant (rsID / SNP)

rs397515972

rs397515972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,359,008. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MYBPC3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 11:47359008
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)

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.