Variant (rsID / SNP)

rs3755319

rs3755319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,667,582. Clinical significance in the table: Pathogenic.

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Reference-table entries

UGT1A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:234667582
Cytoband: 2q37.1
HGVS: NM_001072.4(UGT1A6):c.862-8098=
Allele change: Silent

Associated conditions / phenotypes

Lucey-Driscoll syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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