Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

G/T | Ancestral: T | Ambiguity code: K | MAF: 0.33 (G)

Chromosome X:43731789 (forward strand) | View in location tab


with COSMIC COSM4156846 (G/T) ; HGMD-PUBLIC CM073190

Most severe consequence
Evidence status

Clinical significance


This variation has 3 HGVS names - click the plus to show

This variation has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 3 transcripts, has 2401 individual genotypes, is associated with 1 phenotype and is mentioned in 19 citations.

Variation displays