Variant (rsID / SNP)
rs587777518
rs587777518 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TJP2. Location: chromosome 9, position 71,836,226. Clinical significance in the table: Pathogenic.
Reference-table entries
TJP2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:71836226
- Cytoband
- 9q21.11
- HGVS
- NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
Associated conditions / phenotypes
Cholestasis, progressive familial intrahepatic, 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.