Original source

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

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

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance


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