Original source

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

T/C | Ancestral: T | Ambiguity code: Y | 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 8 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

This variant has assays on 6 chips - click the plus to show

About this variant

This variant overlaps 15 transcripts, has 3219 sample genotypes, is associated with 9 phenotypes and is mentioned in 8 citations.

Variant displays