Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 11:124870650 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041426

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15853

This variant has 5 HGVS names - click the plus to show

11:g.124870650G>A
ENST00000397801.5:c.955G>A
ENSP00000380903.1:p.Glu319Lys
ENST00000538940.5:c.889G>A
ENSP00000441797.1:p.Glu297Lys

About this variant

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

Variant displays