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 17:42911235 (forward strand) | View in location tab

Co-located

with COSMIC COSM1252915 (C/T) ; HGMD-PUBLIC CM930262

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 6316, 2010_April_001_051_G6PC_232200_0003

This variant has 8 HGVS names - click the plus to show

17:g.42911235C>T
ENST00000585489.1:c.*275C>T
ENST00000592383.5:c.*275C>T
ENST00000253801.6:c.883C>T
ENSP00000253801.1:p.Arg295Cys
LRG_147:g.15438C>T
LRG_147t1:c.883C>T
LRG_147p1:p.Arg295Cys

About this variant

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

Variant displays