Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 8:99784394 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041279

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 15257

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

8:g.99784394G>A
ENST00000358544.6:c.7934G>A
ENSP00000351346.2:p.Gly2645Asp
ENST00000357162.6:c.7859G>A
ENSP00000349685.2:p.Gly2620Asp
LRG_351:g.776129G>A
LRG_351t2:c.7859G>A
LRG_351p2:p.Gly2620Asp
LRG_351t1:c.7934G>A
LRG_351p1:p.Gly2645Asp

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays