Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (A)

Chromosome 11:27658560 (forward strand) | View in location tab


with HGMD-PUBLIC CM023769

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 88 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 54 transcripts, has 2925 sample genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variant displays