Original source

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

A/G | Ancestral: A | Ambiguity code: R | MAF: 0.09 (G)

Chromosome 2:47790942 (forward strand) | View in location tab


with COSMIC COSM4133863 (A/G) ; PhenCode MMR_c.276A>G (A/G)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


This variant has 8 synonyms - Show

HGVS names

This variant has 21 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 15 transcripts, has 4336 sample genotypes, is associated with 3 phenotypes and is mentioned in 9 citations.

Variant displays