Original source

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

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

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

Co-located variants

COSMIC COSM4416035 ; HGMD-PUBLIC CM042750 ; PhenCode MMR_c.3488A>T (A/T)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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, is associated with 4 phenotypes and is mentioned in 1 citation.

Variant displays