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:48528351 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM002590, CM024395

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6922, 2010_April_001_088_EBP_300205_0011

HGVS names

This variant has 5 HGVS names - Hide

X:g.48528351G>A
ENST00000276096.10:n.545G>A
ENST00000495186.5:c.587G>A
ENSP00000417052.1:p.Trp196Ter
ENST00000498425.1:n.708G>A

About this variant

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

Variant displays