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 12:32879021 (forward strand) | View in location tab

Co-located

with COSMIC COSM468293 (G/A) ; HGMD-PUBLIC CM043053

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 11517

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

12:g.32879021G>A
ENST00000340811.8:c.235C>T
ENSP00000342800.4:p.Arg79Ter
ENST00000613243.1:c.235C>T
ENSP00000478295.1:p.Arg79Ter
ENST00000070846.10:c.235C>T
ENSP00000070846.6:p.Arg79Ter
LRG_398:g.22826C>T
LRG_398t1:c.235C>T
LRG_398p1:p.Arg79Ter

About this variant

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

Variant displays