This variant has been flagged

Variation has more than 3 different alleles

Original source

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

G/A/C/T | Ancestral: G | Ambiguity code: N | MAF: 0.01 (C)

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


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

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_ImmunoChip, Illumina_ExomeChip

About this variant

This variant overlaps 12 transcripts, has 2506 sample genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variant displays