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 17:81512000 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM032825

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 28 HGVS names - click the plus to show

17:g.81512000G>A
ENST00000575994.5:c.266C>T
ENSP00000460464.1:p.Thr89Ile
ENST00000576214.2:n.287C>T
ENST00000576209.5:n.151C>T
ENST00000576917.5:n.319C>T
ENST00000572105.6:c.266C>T
ENSP00000462823.1:p.Thr89Ile
ENST00000575842.5:c.266C>T
ENSP00000458162.1:p.Thr89Ile
ENST00000615544.4:c.266C>T
ENSP00000477968.1:p.Thr89Ile
ENST00000571691.5:c.239C>T
ENSP00000461407.1:p.Thr80Ile
ENST00000573283.5:c.266C>T
ENSP00000458435.1:p.Thr89Ile
ENST00000571721.5:c.266C>T
ENSP00000460660.1:p.Thr89Ile
ENST00000331925.6:c.266C>T
ENSP00000331514.2:p.Thr89Ile
ENST00000575087.5:c.266C>T
ENSP00000459124.1:p.Thr89Ile
ENST00000576544.5:c.266C>T
ENSP00000461672.1:p.Thr89Ile
ENST00000575659.5:c.266C>T
ENSP00000459119.1:p.Thr89Ile
ENST00000570382.1:c.266C>T
ENSP00000466346.1:p.Thr89Ile

About this variant

This variant overlaps 19 transcripts, 1 regulatory feature and is associated with 3 phenotypes.

Variant displays