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Variant (rsID / SNP)

rs387907208

ABCC9

rs387907208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 21,995,261. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCC9Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:21995261
Cytoband
12p12.1
HGVS
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
Allele change
Missense_R1154G

Associated conditions / phenotypes

Hypertrichotic osteochondrodysplasia Cantu type|Dilated cardiomyopathy 1O|15 conditions

Public references

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