Original source

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

T/C | Ancestral: T | Ambiguity code: Y | MAF: 0.14 (C)

Chromosome 2:47795976 (forward strand) | View in location tab


with COSMIC COSM3758252 (T/C) ; PhenCode MMR_c.540T>C (T/C)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance


This variant has 7 synonyms - Show

HGVS names

This variant has 22 HGVS names - Show

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 16 transcripts, has 4003 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays