Original source

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

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

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

Co-located variants

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

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_026494

HGVS names

This variant has 31 HGVS names - Show

About this variant

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

Variant displays