Original source

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

C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.08 (T)

Chromosome 21:42388518 (forward strand) | View in location tab


with COSMIC COSM3758907 (C/T), COSM3758909 (C/T), COSM3758908 (C/T)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 11 HGVS names - Show

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 7 transcripts, has 2822 sample genotypes, is associated with 1 phenotype and is mentioned in 1 citation.

Variant displays