Original source

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

G/A/T|Ancestral: G|Ambiguity code: D

Chromosome X:48684407 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM961454, CM941406, CM941405

Most severe consequence
Missense variant
Evidence status

Clinical significance


LSDB 7269, 7270

HGVS names

This variant has 20 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, 1 regulatory feature and is associated with 4 phenotypes.

Variant displays