Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.01 (C)
Location

Chromosome 12:40320043 (forward strand) | View in location tab

Co-located

with COSMIC COSM1361433 (G/A), COSM1361432 (G/A) ; HGMD-PUBLIC CM084928

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 6 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 4 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variant displays