Original source

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

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

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

Co-located variants

COSMIC COSM945876 ; HGMD-PUBLIC CM993506

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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