Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variants

HGMD-PUBLIC CM900133, CM830001

Most severe consequence
Stop gained
Evidence status

Clinical significance


LSDB 8292, 8293

HGVS names

This variant has 10 HGVS names - Show

About this variant

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

Variant displays