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 8:99854202 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041281

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15258

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

8:g.99854202C>T
ENST00000358544.6:c.10888C>T
ENSP00000351346.2:p.Gln3630Ter
ENST00000357162.6:c.10813C>T
ENSP00000349685.2:p.Gln3605Ter
LRG_351:g.845937C>T
LRG_351t2:c.10813C>T
LRG_351p2:p.Gln3605Ter
LRG_351t1:c.10888C>T
LRG_351p1:p.Gln3630Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays