Original source

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

A/C/T | Ancestral: A | Ambiguity code: H

Chromosome X:38367353 (forward strand) | View in location tab


with HGMD-PUBLIC CM971094, CD982840, CM062942

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays