Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

C/A | Ancestral: C | Ambiguity code: M | MAF: 0.09 (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
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

About this variant

This variant overlaps 15 transcripts, has 1170 individual genotypes, is associated with 2 phenotypes and is mentioned in 4 citations.

Variation displays