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 2:15942281 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM083732

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_005378.4:c.217G>T, 4418

This variant has 3 HGVS names - click the plus to show

2:g.15942281G>T
ENST00000281043.3:c.217G>T
ENSP00000281043.3:p.Glu73Ter

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays