Original source

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

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

Chromosome 12:40299125 (forward strand) | View in location tab


with HGMD-PUBLIC CM043517

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 8 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ImmunoChip

About this variant

This variant overlaps 4 transcripts, has 2 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays