Original source

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

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

Chromosome X:37792023 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4885217 ; HGMD-PUBLIC CM980464 ; PhenCode CYBBbase_D0025:g.12956C>T (C/T)

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 4 phenotypes and is mentioned in 2 citations.

Variant displays