Original source

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

T/C/G | Ancestral: T | Ambiguity code: B | MAF: < 0.01 (C)

Chromosome 2:47800616 (forward strand) | View in location tab


with HGMD-PUBLIC CM003461 ; PhenCode MMR_c.2633T>C (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 9 synonyms - Show

HGVS names

This variant has 36 HGVS names - Show

Genotyping chips

This variant has assays on 6 chips - Show

About this variant

This variant overlaps 30 transcripts, has 3219 sample genotypes, is associated with 7 phenotypes and is mentioned in 8 citations.

Variant displays