Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R
Location

Chromosome X:37809604 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM940325 ; PhenCode CYBBbase_D0025:g.30541A>G (A/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

This variant overlaps 3 transcripts, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays