Original source

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

C/G/T | Ancestral: C | Ambiguity code: B | MAF: 0.49 (T)

Chromosome 2:48963902 (forward strand) | View in location tab


with COSMIC COSM3927764 (C/T) ; HGMD-PUBLIC CM062747

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 20 HGVS names - Show

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 10 transcripts, has 4052 sample genotypes, is associated with 2 phenotypes and is mentioned in 18 citations.

Variant displays