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 - Hide

16:g.88646761T>C
ENST00000563526.5:n.256A>G
ENST00000567174.5:c.281A>G
ENSP00000454951.1:p.His94Arg
ENST00000568278.1:c.281A>G
ENSP00000455506.1:p.His94Arg
ENST00000569359.5:c.281A>G
ENSP00000456079.1:p.His94Arg
ENST00000566229.1:c.270A>G
ENST00000566229.1:c.270A>G(p.=)
ENST00000565588.5:c.65A>G
ENST00000565588.5:c.65A>G(p.=)
ENST00000261623.7:c.281A>G
ENSP00000261623.3:p.His94Arg
ENST00000562209.1:n.561A>G
ENST00000566534.5:n.303A>G
LRG_52:g.9289A>G
LRG_52t1:c.281A>G
LRG_52p1:p.His94Arg

About this variant

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

Variant displays