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 16:88646773 (forward strand)|View in location tab

Co-located variants
Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15769, 2010_April_001_024_CYBA_608508_0003

HGVS names

This variant has 19 HGVS names - Hide

16:g.88646773C>T
ENST00000563526.5:n.244G>A
ENST00000567174.5:c.269G>A
ENSP00000454951.1:p.Arg90Gln
ENST00000568278.1:c.269G>A
ENSP00000455506.1:p.Arg90Gln
ENST00000569359.5:c.269G>A
ENSP00000456079.1:p.Arg90Gln
ENST00000566229.1:c.258G>A
ENST00000566229.1:c.258G>A(p.=)
ENST00000565588.5:c.53G>A
ENST00000565588.5:c.53G>A(p.=)
ENST00000261623.7:c.269G>A
ENSP00000261623.3:p.Arg90Gln
ENST00000562209.1:n.549G>A
ENST00000566534.5:n.291G>A
LRG_52:g.9277G>A
LRG_52t1:c.269G>A
LRG_52p1:p.Arg90Gln

About this variant

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

Variant displays