Variant (rsID / SNP)
rs35003977
rs35003977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,669,607. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.
Reference-table entries
UGT1A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:234669607
- Cytoband
- 2q37.1
- HGVS
- NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
- Allele change
- Silent
Associated conditions / phenotypes
Hyperbilirubinemia|Gilbert syndrome|Crigler-Najjar syndrome|Lucey-Driscoll syndrome|Crigler-Najjar syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
