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 1:115033456 (forward strand) | View in location tab

Co-located

with COSMIC COSM894304 (G/A) ; HGMD-PUBLIC CM900214

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5593

This variant has 5 HGVS names - click the plus to show

1:g.115033456G>T
ENST00000256592.2:c.94G>T
ENSP00000256592.1:p.Glu32Ter
ENST00000369517.1:c.94G>T
ENSP00000358530.1:p.Glu32Ter

About this variant

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

Variant displays