Original source

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

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

Chromosome 16:88646761 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM920220 ; PhenCode CYBAbase_D0024:g.5281A>G (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15772, 2010_April_001_027_CYBA_608508_0006

HGVS names

This variant has 19 HGVS names - Show

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variant displays