Original source

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

Alleles
C/G/T | Ancestral: C | Ambiguity code: B
Location

Chromosome X:134475197 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM830001, CM900133

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 8293, 8292

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

About this variant

This variant overlaps 6 transcripts and is associated with 7 phenotypes.

Variant displays