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 11:124871062 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM041427

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15848

HGVS names

This variant has 5 HGVS names - Hide

11:g.124871062G>A
ENST00000538940.5:c.1016G>A
ENSP00000441797.1:p.Gly339Glu
ENST00000397801.5:c.1082G>A
ENSP00000380903.1:p.Gly361Glu

About this variant

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

Variant displays