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Variant (rsID / SNP)

rs377384557

ABCC9

rs377384557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,078,910. 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
12:22078910
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.372T>C (p.Asn124=)
Allele change
Synonymous_N124N

Associated conditions / phenotypes

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

Public references

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