Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: < 0.01 (A)
Location

Chromosome 11:18269755 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910350

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 268

HGVS names

This variant has 7 HGVS names - Hide

11:g.18269755G>A
ENST00000356524.8:c.269G>A
ENSP00000348918.4:p.Gly90Asp
ENST00000532858.5:c.269G>A
ENSP00000436866.1:p.Gly90Asp
ENST00000405158.2:c.269G>A
ENSP00000384906.2:p.Gly90Asp

Genotyping chips

This variant has assays on 4 chips - Show

About this variant

This variant overlaps 4 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays