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

Co-located variants

COSMIC COSM894304 ; HGMD-PUBLIC CM900214

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 5593

HGVS names

This variant has 10 HGVS names - Hide

Variant allele A
1:g.115033456G>A
ENST00000256592.2:c.94G>A
ENSP00000256592.1:p.Glu32Lys
ENST00000369517.1:c.94G>A
ENSP00000358530.1:p.Glu32Lys

Variant allele T
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 4 transcripts and is associated with 2 phenotypes.

Variant displays