Variant (rsID / SNP)
rs497692
rs497692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,789,016. Clinical significance in the table: Benign.
Reference-table entries
ABCB11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:169789016
- Cytoband
- 2q31.1
- HGVS
- NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)
- Allele change
- Synonymous_A1028A
Associated conditions / phenotypes
Progressive familial intrahepatic cholestasis type 2|Benign recurrent intrahepatic cholestasis type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.