Original source

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

T/C/G | Ancestral: C | Ambiguity code: B | MAF: 0.13 (T)

Chromosome 2:219418555 (forward strand) | View in location tab


with COSMIC COSM3749630 (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni2.5

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature, has 2509 sample genotypes and is associated with 2 phenotypes.

Variant displays