Original source

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

T/A/C | Ancestral: T | Ambiguity code: H | MAF: 0.09 (C)

Chromosome X:154535277 (forward strand) | View in location tab


with HGMD-PUBLIC CM880030

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 5 synonyms - Show

HGVS names

This variant has 38 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 24 transcripts, 1 regulatory feature, has 2570 sample genotypes, is associated with 7 phenotypes and is mentioned in 17 citations.

Variant displays