Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 15:45106217 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021261

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14078

This variant has 6 HGVS names - click the plus to show

15:g.45106217G>A
ENST00000389039.10:c.2056C>T
ENSP00000373691.6:p.Gln686Ter
ENST00000558383.1:n.3787C>T
ENST00000603300.1:c.2056C>T
ENSP00000475084.1:p.Gln686Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays