Original source

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

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

Chromosome X:154561696 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM011369 ; PhenCode IKBKGbase_D0046:g.19432T>C (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


Uniprot VAR_011321

HGVS names

This variant has 24 HGVS names - Show

About this variant

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

Variant displays