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 6:121446908 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030453

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1373, 2010_April_001_062_GJA1_121014_0005

HGVS names

This variant has 3 HGVS names - Hide

6:g.121446908G>A
ENST00000282561.3:c.61G>A
ENSP00000282561.3:p.Gly21Arg

About this variant

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

Variant displays