Original source

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

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

Chromosome X:37796092 (forward strand) | View in location tab


with HGMD-PUBLIC CM910100, CD011999 ; PhenCode CYBBbase_D0025:g.17025C>T (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays