Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome X:48528351 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002590, CM024395

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6922, 2010_April_001_088_EBP_300205_0011

This variation has 5 HGVS names - click the plus to show

X:g.48528351G>A
ENST00000276096.9:n.545G>A
ENST00000495186.4: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.

Variation displays