Variant (rsID / SNP)

rs730880668

rs730880668 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYBPC3. Location: chromosome 11, position 47,354,858. 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: 11:47354858
Cytoband: 11p11.2
HGVS: NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs)

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.