Variant (rsID / SNP)

rs72551351

rs72551351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,676,568. 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: 2:234676568
Cytoband: 2q37.1
HGVS: NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)
Allele change: Missense_Q354R

Associated conditions / phenotypes

Crigler-Najjar syndrome type 1

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.