Variant (rsID / SNP)
rs8187797
rs8187797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,069,130. Clinical significance in the table: Benign.
Reference-table entries
ABCB4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:87069130
- Cytoband
- 7q21.12
- HGVS
- NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
- Allele change
- Missense_E528D
Associated conditions / phenotypes
Progressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.