Original source

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

C/T | Ancestral: C | Ambiguity code: Y | MAF: 0.10 (T)

Chromosome 21:42389975 (forward strand) | View in location tab


with COSMIC COSM4002040 (C/A), COSM4002043 (C/T), COSM4002045 (C/T), COSM4002042 (C/A), COSM4002044 (C/T), COSM4002041 (C/A)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 6 transcripts, has 4069 sample genotypes, is associated with 1 phenotype and is mentioned in 3 citations.

Variant displays