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:48527202 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM002588

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_086_EBP_300205_0009, 6920

This variant has 10 HGVS names - click the plus to show

About this variant

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

Variant displays