Original source

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

Alleles
A/C|Ancestral: A|Ambiguity code: M
Location

Chromosome 6:121446897 (forward strand)|View in location tab

Co-located variants

COSMIC COSM161265 ; HGMD-PUBLIC CM030451

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_060_GJA1_121014_0003, 1371

HGVS names

This variant has 3 HGVS names - Hide

6:g.121446897A>C
ENST00000282561.3:c.50A>C
ENSP00000282561.3:p.Tyr17Ser

About this variant

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

Variant displays