Original source

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

C/G | Ancestral: C | Ambiguity code: S

Chromosome X:154558649 (forward strand) | View in location tab


with HGMD-PUBLIC CM062780 ; PhenCode IKBKGbase_D0046:g.16384C>G (C/G)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 28 HGVS names - Show

About this variant

This variant overlaps 16 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays