Original source

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

G/A/T | Ancestral: G | Ambiguity code: D

Chromosome 16:50711745 (forward strand) | View in location tab


with HGMD-PUBLIC CM020655

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 22 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays