Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: 0.31 (T)
Location

Chromosome 12:48004297 (forward strand)|View in location tab

Co-located variant

COSMIC COSM3753257

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 8 HGVS names - Hide

12:g.48004297T>A
ENST00000490609.1:n.190A>T
ENST00000380518.7:c.25A>T
ENSP00000369889.3:p.Thr9Ser
ENST00000465743.2:n.66A>T
ENST00000337299.6:c.25A>T
ENSP00000338213.6:p.Thr9Ser
ENST00000474996.6:n.153A>T

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2691 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays