Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance


Uniprot VAR_026491

This variation has 31 HGVS names - click the plus to show

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

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

Variation displays