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 X:67545150 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM960074

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 8538, 2010_April_001_014_AR_313700_0038

HGVS names

This variant has 15 HGVS names - Hide

X:g.67545150G>A
ENST00000504326.5:c.4G>A
ENSP00000421155.1:p.Glu2Lys
ENST00000613054.2:c.4G>A
ENSP00000479013.1:p.Glu2Lys
ENST00000396044.7:c.4G>A
ENSP00000379359.3:p.Glu2Lys
ENST00000374690.7:c.4G>A
ENSP00000363822.3:p.Glu2Lys
ENST00000514029.5:c.4G>A
ENSP00000425199.1:p.Glu2Lys
ENST00000612452.4:c.-567G>A
ENST00000612010.4:c.4G>A
ENSP00000482407.1:p.Glu2Lys
ENST00000513847.5:n.331G>A

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays