Original source

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

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

Chromosome X:154556314 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM045871 ; PhenCode IKBKGbase_D0046:g.14049G>A (G/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_026493

HGVS names

This variant has 31 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays