Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 7:94428367 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041284

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 20 HGVS names - Hide

Variant allele A
7:g.94428367G>A
ENST00000481570.5:n.4382G>A
ENST00000297268.10:c.3601G>A
ENSP00000297268.6:p.Glu1201Lys
ENST00000620463.1:c.3595G>A
ENSP00000477719.1:p.Glu1199Lys
ENST00000464916.1:n.649G>A
LRG_2:g.38807G>A
LRG_2t1:c.3601G>A
LRG_2p1:p.Glu1201Lys

Variant allele T
7:g.94428367G>T
ENST00000481570.5:n.4382G>T
ENST00000297268.10:c.3601G>T
ENSP00000297268.6:p.Glu1201Ter
ENST00000620463.1:c.3595G>T
ENSP00000477719.1:p.Glu1199Ter
ENST00000464916.1:n.649G>T
LRG_2:g.38807G>T
LRG_2t1:c.3601G>T
LRG_2p1:p.Glu1201Ter

About this variant

This variant overlaps 18 transcripts and is associated with 2 phenotypes.

Variant displays