Variant (rsID / SNP)
rs2230029
rs2230029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,038,596. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCB4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:87038596
- Cytoband
- 7q21.12
- HGVS
- NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
- Allele change
- Synonymous_R1013R
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.