Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 17:42909353 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950487, CM001694

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_060_G6PC_232200_0014, 6327

This variant has 9 HGVS names - click the plus to show

17:g.42909353T>G
ENST00000585489.1:c.447-1562T>G
ENST00000592383.5:c.420T>G
ENSP00000465958.1:p.Cys140Trp
ENST00000253801.6:c.497T>G
ENSP00000253801.1:p.Val166Gly
LRG_147:g.13556T>G
LRG_147t1:c.497T>G
LRG_147p1:p.Val166Gly

About this variant

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

Variant displays