Original source

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

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.07 (A)

Chromosome 2:47783419 (forward strand) | View in location tab


with COSMIC COSM3758251 (C/A) ; PhenCode MMR_c.186C>A (C/A)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


This variant has 2 synonyms - Show

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 14 transcripts, 1 regulatory feature, has 2581 sample genotypes, is associated with 3 phenotypes and is mentioned in 4 citations.

Variant displays