Original source

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

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

Chromosome 3:122283963 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM970228 ; PhenCode CASRdb_c.2009G>A (G/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 9985, 2010_April_001_042_CASR_601199_0020

HGVS names

This variant has 5 HGVS names - Show

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays