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 11:17387331 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM043296

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 9660, 2010_April_001_203_KCNJ11_600937_0011

HGVS names

This variant has 5 HGVS names - Hide

11:g.17387331G>A
ENST00000528731.1:c.500C>T
ENSP00000434755.1:p.Pro167Leu
ENST00000339994.4:c.761C>T
ENSP00000345708.4:p.Pro254Leu

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays