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 11:2164339 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001359

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 9 HGVS names - click the plus to show

11:g.2164339G>A
ENST00000352909.7:c.1388C>T
ENSP00000325951.3:p.Thr463Met
ENST00000381178.5:c.1481C>T
ENSP00000370571.1:p.Thr494Met
ENST00000333684.9:c.1106C>T
ENSP00000328814.6:p.Thr369Met
ENST00000381175.5:c.1469C>T
ENSP00000370567.1:p.Thr490Met

About this variant

This variant overlaps 18 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 3 phenotypes.

Variant displays