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:48523858 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990494

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_083_EBP_300205_0001, 6912

HGVS names

This variant has 9 HGVS names - Hide

X:g.48523858G>A
ENST00000446158.5:c.87G>A
ENSP00000390031.1:p.Trp29Ter
ENST00000495186.5:c.87G>A
ENSP00000417052.1:p.Trp29Ter
ENST00000276096.10:n.110-65G>A
ENST00000498425.1:n.208G>A
ENST00000414061.1:c.87G>A
ENSP00000405832.1:p.Trp29Ter

About this variant

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

Variant displays