Variant (rsID / SNP)

rs17846788

rs17846788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,068,749. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCC9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:22068749
Cytoband: 12p12.1
HGVS: NM_020297.4(ABCC9):c.669G>T (p.Leu223=)
Allele change: Synonymous_L223L

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.