Original source

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

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

Chromosome 9:126693250 (forward strand)|View in location tab

Co-located variants

COSMIC COSM1460049, COSM1460050 ; HGMD-PUBLIC CM981214

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

9:g.126693250G>A
ENST00000373474.8:c.668G>A
ENSP00000362573.3:p.Arg223Gln
ENST00000526117.5:c.668G>A
ENSP00000436930.1:p.Arg223Gln
ENST00000561065.1:c.599G>A
ENSP00000453580.1:p.Arg200Gln
ENST00000355497.9:c.668G>A
ENSP00000347684.5:p.Arg223Gln

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays