Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome X:48528287 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002589

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6921, 2010_April_001_087_EBP_300205_0010

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

X:g.48528287C>T
ENST00000276096.10:n.481C>T
ENST00000495186.5:c.523C>T
ENSP00000417052.1:p.Gln175Ter
ENST00000498425.1:n.644C>T

About this variant

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

Variant displays