Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.45 (T)

Chromosome 12:40364850 (forward strand) | View in location tab


with COSMIC COSM3753219 (T/C), COSM3753218 (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 5 HGVS names - Show

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 3 transcripts, has 3967 sample genotypes, is associated with 1 phenotype and is mentioned in 11 citations.

Variant displays