Original source

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

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

Chromosome 2:27313032 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3391675, COSM3391676 ; HGMD-PUBLIC CM061856

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB NM_002437.4:c.148C>T, 2178

HGVS names

This variant has 29 HGVS names - Show

About this variant

This variant overlaps 23 transcripts and is associated with 2 phenotypes.

Variant displays