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:48527202 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002588

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_086_EBP_300205_0009, 6920

HGVS names

This variant has 10 HGVS names - Hide

X:g.48527202G>A
ENST00000466461.1:n.225G>A
ENST00000276096.10:n.344G>A
ENST00000414061.1:c.386G>A
ENSP00000405832.1:p.Trp129Ter
ENST00000495186.5:c.386G>A
ENSP00000417052.1:p.Trp129Ter
ENST00000498425.1:n.507G>A
ENST00000446158.5:c.386G>A
ENSP00000390031.1:p.Trp129Ter

About this variant

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

Variant displays