Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

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 - click the plus to show

This variant has 17 HGVS names - click the plus to 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