Variant (rsID / SNP)

rs72551348

rs72551348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,675,807. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UGT1A1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:234675807
Cytoband: 2q37.1
HGVS: NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)
Allele change: Missense_Q328R

Associated conditions / phenotypes

Crigler-Najjar syndrome, type II

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.