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:48524009 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990496

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

X:g.48524009G>A
ENST00000446158.5:c.238G>A
ENSP00000390031.1:p.Glu80Lys
ENST00000495186.5:c.238G>A
ENSP00000417052.1:p.Glu80Lys
ENST00000276096.10:n.196G>A
ENST00000498425.1:n.359G>A
ENST00000414061.1:c.238G>A
ENSP00000405832.1:p.Glu80Lys

About this variant

This variant overlaps 17 transcripts and is associated with 2 phenotypes.

Variant displays