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Variant (rsID / SNP)

rs4148327

UGT1A1

rs4148327 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,675,826. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UGT1A1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:234675826
Cytoband
2q37.1
HGVS
NM_000463.3(UGT1A1):c.996+15T>C
Allele change
Silent

Associated conditions / phenotypes

Hyperbilirubinemia|Gilbert syndrome|Crigler-Najjar syndrome|Lucey-Driscoll syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.