Original source

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

G/A | Ancestral: G | Ambiguity code: R

Chromosome X:154552171 (forward strand) | View in location tab


with HGMD-PUBLIC CM012972 ; PhenCode IKBKGbase_D0046:g.9900G>A (G/A)

Most severe consequence
Start lost
Evidence status

Clinical significance


Uniprot VAR_026491

HGVS names

This variant has 31 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 21 transcripts, is associated with 2 phenotypes and is mentioned in 2 citations.

Variant displays