Original source

Variants (including SNPs and indels) imported from dbSNP (release 144) | View in dbSNP

A/G | Ancestral: A | Ambiguity code: R

Chromosome 2:233767161 (forward strand) | View in location tab


with COSMIC COSM301327 (A/C), COSM301330 (A/C), COSM301334 (A/C), COSM301332 (A/C), COSM301331 (A/C), COSM301333 (A/C), COSM301328 (A/C), COSM301329 (A/C), COSM301335 (A/C) ; HGMD-PUBLIC CM930723

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_129_UGT1A1_191740_0005, 5991

HGVS names

This variant has 36 HGVS names - Show

About this variant

This variant overlaps 18 transcripts and is associated with 2 phenotypes.

Variant displays