Original source

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

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

Chromosome 13:20223467 (forward strand) | View in location tab


with COSMIC COSM945876 (G/A) ; HGMD-PUBLIC CM993506

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 2010_April_001_050_GJB6_604418_0001, 12666

HGVS names

This variant has 9 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays