Original source

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

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

Chromosome 16:88651007 (forward strand)|View in location tab

Co-located variants

COSMIC COSM131493 ; HGMD-PUBLIC CM001111 ; PhenCode CYBAbase_D0024:g.1035C>T (G/A)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_029_CYBA_608508_0009, 15775

HGVS names

This variant has 15 HGVS names - Show

About this variant

This variant overlaps 20 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays