Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M | MAF: 0.04 (C)
Location

Chromosome 12:10118488 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM094546

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 17 HGVS names - click the plus to show

12:g.10118488A>C
ENST00000465100.5:c.*500T>G
ENST00000298523.9:c.*25T>G
ENST00000353231.9:c.576T>G
ENSP00000266456.6:p.Tyr192Ter
ENST00000304084.12:c.714T>G
ENSP00000302569.8:p.Tyr238Ter
ENST00000396484.6:c.477T>G
ENSP00000379743.2:p.Tyr159Ter
ENST00000534609.5:n.2014T>G
ENST00000533022.5:c.*25T>G
ENST00000529761.5:c.714T>G
ENSP00000432876.1:p.Tyr238Ter
ENST00000349926.9:c.*187T>G
LRG_179:g.16782T>G
LRG_179t1:c.714T>G
LRG_179p1:p.Tyr238Ter

This variant has assays on 8 chips - click the plus to show

About this variant

This variant overlaps 11 transcripts, has 3775 sample genotypes, is associated with 3 phenotypes and is mentioned in 9 citations.

Variant displays