Original source

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

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

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

Co-located variants

COSMIC COSM4985848 ; HGMD-PUBLIC CM003461 ; PhenCode MMR_c.2633T>C (T/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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 9 phenotypes and is mentioned in 8 citations.

Variant displays