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Variant (rsID / SNP)

rs535477725

ABCC9

rs535477725 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,017,417. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCC9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:22017417
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.2199-6T>C
Allele change
Silent

Associated conditions / phenotypes

Dilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.