Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 6:121446899 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM030452

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1372, 2010_April_001_061_GJA1_121014_0004

HGVS names

This variant has 3 HGVS names - Hide

6:g.121446899T>C
ENST00000282561.3:c.52T>C
ENSP00000282561.3:p.Ser18Pro

About this variant

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

Variant displays