Original source

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

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

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

Co-located variants

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

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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