Variant (rsID / SNP)

rs397517184

rs397517184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,059,075. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCC9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:22059075
Cytoband: 12p12.1
HGVS: NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
Allele change: Missense_Y535H

Associated conditions / phenotypes

Dilated cardiomyopathy 1O

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.