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 20:59300861 (forward strand) | View in location tab


with HGMD-PUBLIC CM972862

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 2742 sample genotypes and is associated with 3 phenotypes.

Variant displays