Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 11:5254939 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CR850012

Most severe consequence
 
5 prime UTR variant
Evidence status

Clinical significance

HGVS names

This variant has 3 HGVS names - Hide

11:g.5254939G>A
ENST00000380252.5:c.63-425C>T
ENST00000380259.6:c.-211C>T

Genotyping chips

This variant has assays on: HumanOmniExpress, Illumina_HumanOmni5

About this variant

This variant overlaps 6 transcripts, has 2 sample genotypes, is associated with 2 phenotypes and is mentioned in 31 citations.

Variant displays