Original source

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

C/T | Ancestral: T | Ambiguity code: Y | MAF: 0.46 (T)

Chromosome 21:42385528 (forward strand) | View in location tab


with COSMIC COSM1414270 (C/T), COSM3758906 (C/T), COSM3758905 (C/T)

Most severe consequence
Synonymous variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 7 HGVS names - click the plus to show

This variant has assays on 7 chips - click the plus to show

About this variant

This variant overlaps 8 transcripts, has 4073 sample genotypes, is associated with 1 phenotype and is mentioned in 2 citations.

Variant displays