Original source

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

A/T | Ancestral: A | Ambiguity code: W | MAF: < 0.01 (T)

Chromosome 2:47804959 (forward strand) | View in location tab


with HGMD-PUBLIC CM042750 ; PhenCode MMR_c.3488A>T (A/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 17 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 14 transcripts, has 2504 sample genotypes and is associated with 4 phenotypes.

Variant displays