Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.04 (T)

Chromosome X:154536002 (forward strand) | View in location tab


with COSMIC COSM161186 (C/T) ; HGMD-PUBLIC CM880029

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 12 transcripts, has 3566 sample genotypes, is associated with 13 phenotypes and is mentioned in 26 citations.

Variant displays