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 7:94420276 (forward strand)|View in location tab

Co-located variants

COSMIC COSM388431 ; HGMD-PUBLIC CM900074

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

7:g.94420276G>A
ENST00000297268.10:c.2123G>A
ENSP00000297268.6:p.Arg708Gln
ENST00000473573.5:n.460G>A
ENST00000620463.1:c.2117G>A
ENSP00000477719.1:p.Arg706Gln
ENST00000497316.5:n.520G>A
ENST00000461525.5:n.212G>A
ENST00000467931.1:n.143G>A
LRG_2:g.30716G>A
LRG_2t1:c.2123G>A
LRG_2p1:p.Arg708Gln

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays