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 8:99720973 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031146

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15253

This variant has 11 HGVS names - click the plus to show

8:g.99720973C>T
ENST00000518569.1:n.106C>T
ENST00000358544.6:c.7051C>T
ENSP00000351346.2:p.Arg2351Ter
ENST00000357162.6:c.6976C>T
ENSP00000349685.2:p.Arg2326Ter
LRG_351:g.712708C>T
LRG_351t2:c.6976C>T
LRG_351p2:p.Arg2326Ter
LRG_351t1:c.7051C>T
LRG_351p1:p.Arg2351Ter

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays