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 14:20474555 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870015 ; PhenCode NPbase_D0064:g.6146G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_033_NP_164050_0001, 4317

This variant has 15 HGVS names - click the plus to show

14:g.20474555G>A
ENST00000557229.5:n.384G>A
ENST00000553591.1:c.382G>A
ENSP00000452421.1:p.Glu128Lys
ENST00000554065.1:c.28G>A
ENSP00000451108.1:p.Glu10Lys
ENST00000553418.5:c.265G>A
ENSP00000450663.1:p.Glu89Lys
ENST00000556754.1:n.1172G>A
ENST00000361505.9:c.265G>A
ENSP00000354532.5:p.Glu89Lys
ENST00000554056.5:n.376G>A
LRG_91:g.10173G>A
LRG_91t1:c.265G>A
LRG_91p1:p.Glu89Lys

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays