Original source

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

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

Chromosome X:111401108 (forward strand) | View in location tab


with HGMD-PUBLIC CM013361 ; dbSNP rs386576624 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 6 transcripts and is associated with 5 phenotypes.

Variant displays