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Variant (rsID / SNP)

rs143346402

ABCC9

rs143346402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,059,121. 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
12:22059121
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=)
Allele change
Synonymous_E519E

Associated conditions / phenotypes

Hypertrichotic osteochondrodysplasia Cantu type|Cardiovascular phenotype|Cardiomyopathy|Dilated cardiomyopathy 1O

Public references

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