Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W
Location

Chromosome X:37810805 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM980491 ; PhenCode CYBBbase_D0025:g.31742T>A (T/A)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 7 HGVS names - Show

About this variant

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

Variant displays