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 6:121447428 (forward strand)|View in location tab

Co-located variants

COSMIC COSM320581 ; HGMD-PUBLIC CM050267

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1381, 2010_April_001_068_GJA1_121014_0013

HGVS names

This variant has 3 HGVS names - Hide

6:g.121447428A>C
ENST00000282561.3:c.581A>C
ENSP00000282561.3:p.His194Pro

About this variant

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

Variant displays