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

Co-located

with HGMD-PUBLIC CR850012

Most severe consequence
Evidence status

Clinical significance

This variation has 3 HGVS names - click the plus to show

11:g.5254939G>A
ENST00000380252.4:c.63-425C>T
ENST00000380259.5:c.-211C>T

Genotyping chips

This variation has assays on: HumanOmniExpress, Illumina_HumanOmni5

About this variant

This variant overlaps 6 transcripts, has 2 individual genotypes, is associated with 2 phenotypes and is mentioned in 29 citations.

Variation displays