Original source

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

T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.24 (C)

Chromosome 21:42383058 (forward strand) | View in location tab


with COSMIC COSM3758902 (T/C), COSM3758904 (T/C), COSM3758903 (T/C)

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 6 synonyms - Show

HGVS names

This variant has 12 HGVS names - Show

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 8 transcripts, has 3800 sample genotypes, is associated with 1 phenotype and is mentioned in 3 citations.

Variant displays