Variant (rsID / SNP)
rs72558199
rs72558199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,591,826. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ABCC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:101591826
- Cytoband
- 10q24.2
- HGVS
- NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)
- Allele change
- Nonsense_R1066X
Associated conditions / phenotypes
Dubin-Johnson syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.