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
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

12:g.10118488A>C
ENST00000465100.4:c.*500T>G
ENST00000298523.8:c.*25T>G
ENST00000353231.8:c.576T>G
ENSP00000266456.6:p.Tyr192Ter
ENST00000304084.11:c.714T>G
ENSP00000302569.8:p.Tyr238Ter
ENST00000396484.5:c.477T>G
ENSP00000379743.2:p.Tyr159Ter
ENST00000534609.4:n.2014T>G
ENST00000533022.4:c.*25T>G
ENST00000529761.4:c.714T>G
ENSP00000432876.1:p.Tyr238Ter
ENST00000349926.8:c.*187T>G
LRG_179:g.16782T>G
LRG_179t1:c.714T>G
LRG_179p1:p.Tyr238Ter

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

About this variant

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

Variation displays