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 1:25809096 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13654

HGVS names

This variant has 7 HGVS names - Hide

1:g.25809096G>A
ENST00000361547.6:c.818G>A
ENSP00000355141.2:p.Gly273Glu
ENST00000354177.8:c.716G>A
ENSP00000346109.4:p.Gly239Glu
ENST00000374315.1:c.716G>A
ENSP00000363434.1:p.Gly239Glu

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays