Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 6:121446912 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030454

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_063_GJA1_121014_0006, 1374

This variant has 3 HGVS names - click the plus to show

6:g.121446912G>A
ENST00000282561.3:c.65G>A
ENSP00000282561.3:p.Gly22Glu

About this variant

This variant overlaps 1 transcript and is associated with 2 phenotypes.

Variant displays