Variant (rsID / SNP)

rs730880388

rs730880388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTC1. Location: chromosome 15, position 35,085,623. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ACTC1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 15:35085623
Cytoband: 15q14
HGVS: NM_005159.5(ACTC1):c.275_277del (p.Phe92del)

Associated conditions / phenotypes

Hypertrophic cardiomyopathy 11

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.