Variant (rsID / SNP)
rs8187802
rs8187802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,049,383. Clinical significance in the table: Benign.
Reference-table entries
ABCB4Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:87049383
- Cytoband
- 7q21.12
- HGVS
- NM_000443.4(ABCB4):c.2325G>C (p.Thr775=)
- Allele change
- Synonymous_T775T
Associated conditions / phenotypes
Cholestasis, intrahepatic, of pregnancy, 3|Progressive familial intrahepatic cholestasis type 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.