Original source

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

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

Chromosome X:154556344 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042369 ; PhenCode IKBKGbase_D0046:g.14079C>T (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_026494

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

About this variant

This variant overlaps 16 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays