Variant (rsID / SNP)
rs12958967
rs12958967 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,315,959. Clinical significance in the table: Benign.
Reference-table entries
ATP8B1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:55315959
- Cytoband
- 18q21.31
- HGVS
- NM_001374385.1(ATP8B1):c.3532-15C>T
- Allele change
- Silent
Associated conditions / phenotypes
Progressive familial intrahepatic cholestasis type 1|Cholestasis, intrahepatic, of pregnancy, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.