Original source

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

G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (A)

Chromosome X:38367361 (forward strand) | View in location tab


with HGMD-PUBLIC CM971095, CM920533

Most severe consequence
Stop gained
Evidence status

Clinical significance


This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 6 transcripts, has 2504 sample genotypes, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays