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 7:94427654 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM070850

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms
HGVS names

This variant has 10 HGVS names - Hide

7:g.94427654G>A
ENST00000481570.5:n.4076G>A
ENST00000297268.10:c.3295G>A
ENSP00000297268.6:p.Gly1099Arg
ENST00000620463.1:c.3289G>A
ENSP00000477719.1:p.Gly1097Arg
ENST00000464916.1:n.343G>A
LRG_2:g.38094G>A
LRG_2t1:c.3295G>A
LRG_2p1:p.Gly1099Arg

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays