Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 11:17388056 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4694403 ; HGMD-PUBLIC CM970815

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 9658, 2010_April_001_202_KCNJ11_600937_0009

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
11:g.17388056G>A
ENST00000526912.1:c.-55C>T
ENST00000528992.1:c.53C>T
ENST00000528992.1:c.53C>T(p.=)
ENST00000528731.1:c.-16-210C>T
ENST00000339994.4:c.36C>T
ENST00000339994.4:c.36C>T(p.=)

Variant allele T
11:g.17388056G>T
ENST00000526912.1:c.-55C>A
ENST00000528992.1:c.53C>A
ENSP00000436479.1:p.Tyr18Ter
ENST00000528731.1:c.-16-210C>A
ENST00000339994.4:c.36C>A
ENSP00000345708.4:p.Tyr12Ter

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays