Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 16:88643474 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910096 ; PhenCode CYBAbase_D0024:g.8568C>A (G/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_026_CYBA_608508_0005, 15771

This variation has 6 HGVS names - click the plus to show

16:g.88643474G>T
ENST00000261623.6:c.467C>A
ENSP00000261623.3:p.Pro156Gln
LRG_52:g.12576C>A
LRG_52t1:c.467C>A
LRG_52p1:p.Pro156Gln

About this variant

This variant overlaps 13 transcripts and is associated with 2 phenotypes.

Variation displays