Original source

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

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

Chromosome 16:88643568 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM081567 ; PhenCode CYBAbase_D0024:g.8474G>A (C/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15778

This variant has 10 HGVS names - click the plus to show

16:g.88643568C>T
ENST00000566229.1:c.362G>A
ENSP00000457060.1:p.Gly121Asp
ENST00000565588.5:c.167G>A
ENST00000261623.7:c.373G>A
ENSP00000261623.3:p.Ala125Thr
ENST00000566534.5:n.952G>A
LRG_52:g.12482G>A
LRG_52t1:c.373G>A
LRG_52p1:p.Ala125Thr

About this variant

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

Variant displays