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

Co-located variants

COSMIC COSM3758251 ; 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