Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

C/T | Ancestral: C | Ambiguity code: Y

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 - click the plus to show

This variant has 20 HGVS names - click the plus to show

This variant has assays on 5 chips - click the plus to show

About this variant

This variant overlaps 12 transcripts, has 1062 sample genotypes, is associated with 12 phenotypes and is mentioned in 25 citations.

Variant displays