Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

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

Co-located

with COSMIC COSM3924266 (G/A) ; HGMD-PUBLIC CM041284

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 10 HGVS names - click the plus to show

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 9 transcripts and is associated with 2 phenotypes.

Variant displays