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 11:17387316 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM053288

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_205_KCNJ11_600937_0013, 9662

HGVS names

This variant has 5 HGVS names - Hide

11:g.17387316T>C
ENST00000528731.1:c.515A>G
ENSP00000434755.1:p.His172Arg
ENST00000339994.4:c.776A>G
ENSP00000345708.4:p.His259Arg

About this variant

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

Variant displays