Variant (rsID / SNP)
rs34993780
rs34993780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,681,059. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
UGT1A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:234681059
- Cytoband
- 2q37.1
- HGVS
- NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
- Allele change
- Missense_Y483D
Associated conditions / phenotypes
Lucey-Driscoll syndrome|Crigler-Najjar syndrome, type II|Hyperbilirubinemia|Crigler-Najjar syndrome, type II|Lucey-Driscoll syndrome|Bilirubin, serum level of, quantitative trait locus 1|Gilbert syndrome|Crigler-Najjar syndrome type 1|Gilbert syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.