Original source

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

C/T | Ancestral: C | Ambiguity code: Y | 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 - click the plus to show

This variant has 10 HGVS names - click the plus to show

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 4052 sample genotypes, is associated with 2 phenotypes and is mentioned in 16 citations.

Variant displays