Original source

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

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

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

Co-located

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 16 transcripts, has 2581 individual genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variation displays