Variant (rsID / SNP)
rs2291550
rs2291550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC9. Location: chromosome 12, position 22,001,088. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCC9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:22001088
- Cytoband
- 12p12.1
- HGVS
- NM_020297.4(ABCC9):c.2862C>T (p.Asp954=)
- Allele change
- Synonymous_D954D
Associated conditions / phenotypes
Dilated cardiomyopathy 1O|Hypertrichotic osteochondrodysplasia Cantu type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.