Variant (rsID / SNP)

rs387907209

rs387907209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 21,995,260. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCC9Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:21995260
Cytoband: 12p12.1
HGVS: NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
Allele change: Missense_R1154Q

Associated conditions / phenotypes

Hypertrichotic osteochondrodysplasia Cantu type|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.