Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 11:2166995 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001356

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 14 HGVS names - click the plus to show

11:g.2166995T>G
ENST00000352909.7:c.733A>C
ENSP00000325951.3:p.Thr245Pro
ENST00000324155.8:c.*422A>C
ENST00000381178.5:c.826A>C
ENSP00000370571.1:p.Thr276Pro
ENST00000469226.1:n.862A>C
ENST00000479437.5:n.282A>C
ENST00000333684.9:c.695+440A>C
ENST00000381168.7:c.*453A>C
ENST00000416223.5:c.*-227A>C
ENST00000412076.1:c.135+440A>C
ENST00000381175.5:c.814A>C
ENSP00000370567.1:p.Thr272Pro

About this variant

This variant overlaps 11 transcripts and is associated with 3 phenotypes.

Variant displays