Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

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

Co-located

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

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_027_CYBA_608508_0006, 15772

This variation has 17 HGVS names - click the plus to show

16:g.88646761T>C
ENST00000563526.4:n.256A>G
ENST00000567174.4:c.281A>G
ENSP00000454951.1:p.His94Arg
ENST00000568278.1:c.281A>G
ENSP00000455506.1:p.His94Arg
ENST00000566229.1:c.270A>G
ENST00000569359.4:c.281A>G
ENSP00000456079.1:p.His94Arg
ENST00000565588.4:c.65A>G
ENST00000261623.6:c.281A>G
ENSP00000261623.3:p.His94Arg
ENST00000562209.1:n.561A>G
ENST00000566534.4: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.

Variation displays