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 4:6302385 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM043882, CM062036

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13641, 2010_April_001_095_WFS1_606201_0020, NM_006005.2:c.2590G>A

HGVS names

This variant has 6 HGVS names - Hide

4:g.6302385G>A
ENST00000507765.1:n.2775G>A
ENST00000503569.5:c.2590G>A
ENSP00000423337.1:p.Glu864Lys
ENST00000226760.5:c.2590G>A
ENSP00000226760.1:p.Glu864Lys

About this variant

This variant overlaps 5 transcripts, is associated with 3 phenotypes and is mentioned in 1 citation.

Variant displays