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 16:89810716 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034036

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 14678

This variant has 20 HGVS names - click the plus to show

16:g.89810716C>T
ENST00000389301.7:c.513G>A
ENSP00000373952.3:p.Trp171Ter
ENST00000567883.5:n.506G>A
ENST00000543736.5:c.426+213G>A
ENST00000534992.5:c.513G>A
ENSP00000443675.1:p.Trp171Ter
ENST00000563673.5:c.513G>A
ENSP00000456443.1:p.Trp171Ter
ENST00000568369.5:c.513G>A
ENSP00000456829.1:p.Trp171Ter
ENST00000563513.1:c.*154G>A
ENST00000389302.7:c.513G>A
ENSP00000373953.3:p.Trp171Ter
ENST00000566889.5:n.1095G>A
ENST00000565582.5:c.426G>A
ENSP00000456722.1:p.Trp142Ter
LRG_495:g.10942G>A
LRG_495t1:c.513G>A
LRG_495p1:p.Trp171Ter

About this variant

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

Variant displays