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 11:17394334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981887

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

11:g.17394334G>A
ENST00000389817.7:c.4477C>T
ENSP00000374467.3:p.Arg1493Trp
ENST00000526037.5:n.237C>T
ENST00000525022.1:n.372C>T
ENST00000531642.5:c.*321C>T
ENST00000526168.5:c.*164C>T
ENST00000302539.8:c.4480C>T
ENSP00000303960.4:p.Arg1494Trp

Genotyping chips

This variant has assays on: Illumina_Human1M-duo, HumanCoreExome-12, Illumina_HumanOmni1-Quad

About this variant

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

Variant displays