Original source

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

G/T | Ancestral: G | Ambiguity code: K | MAF: 0.17 (G)

Chromosome X:154153068 (forward strand) | View in location tab


with COSMIC COSM3759420 (T/G), COSM3759419 (T/G) ; HGMD-PUBLIC CM045803

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 6 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ExomeChip

About this variant

This variant overlaps 3 transcripts, has 2539 sample genotypes and is associated with 2 phenotypes.

Variant displays