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 16:88810450 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM900023

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_009_APRT_102600_0005

This variant has 13 HGVS names - click the plus to show

16:g.88810450C>T
ENST00000426324.6:c.294G>A
ENSP00000397007.2:p.Trp98Ter
ENST00000563655.5:c.241-302G>A
ENST00000562464.1:n.332-302G>A
ENST00000567713.5:c.294G>A
ENSP00000455749.1:p.Trp98Ter
ENST00000569616.1:c.292G>A
ENSP00000455692.1:p.Trp98Ter
ENST00000378364.7:c.294G>A
ENSP00000367615.3:p.Trp98Ter
ENST00000567391.5:c.188-302G>A
ENST00000568319.5:c.188-302G>A

About this variant

This variant overlaps 18 transcripts and is associated with 2 phenotypes.

Variant displays