Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM094546

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 34 HGVS names - Hide

Variant allele C
12:g.10118488A>C
ENST00000298523.9:c.*25T>G
ENST00000465100.5:c.*500T>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
ENST00000533022.5:c.*25T>G
ENST00000534609.5:n.2014T>G
ENST00000349926.9:c.*187T>G
ENST00000529761.5:c.714T>G
ENSP00000432876.1:p.Tyr238Ter
LRG_179:g.16782T>G
LRG_179t1:c.714T>G
LRG_179p1:p.Tyr238Ter

Variant allele G
12:g.10118488A>G
ENST00000298523.9:c.*25T>C
ENST00000465100.5:c.*500T>C
ENST00000353231.9:c.576T>C
ENST00000353231.9:c.576T>C(p.=)
ENST00000304084.12:c.714T>C
ENST00000304084.12:c.714T>C(p.=)
ENST00000396484.6:c.477T>C
ENST00000396484.6:c.477T>C(p.=)
ENST00000533022.5:c.*25T>C
ENST00000534609.5:n.2014T>C
ENST00000349926.9:c.*187T>C
ENST00000529761.5:c.714T>C
ENST00000529761.5:c.714T>C(p.=)
LRG_179:g.16782T>C
LRG_179t1:c.714T>C
LRG_179t1:c.714T>C(p.=)

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 22 transcripts, has 3775 sample genotypes, is associated with 3 phenotypes and is mentioned in 10 citations.

Variant displays