Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

Chromosome 17:42909407 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM990610, CM960671

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 6324, 2010_April_001_057_G6PC_232200_0011

HGVS names

This variant has 9 HGVS names - Hide

17:g.42909407G>A
ENST00000585489.1:c.447-1508G>A
ENST00000253801.6:c.551G>A
ENSP00000253801.1:p.Gly184Glu
ENST00000592383.5:c.474G>A
ENSP00000465958.1:p.Trp158Ter
LRG_147:g.13610G>A
LRG_147t1:c.551G>A
LRG_147p1:p.Gly184Glu

About this variant

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

Variant displays