Original source

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

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

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

Co-located

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 - click the plus to show

This variant has 11 HGVS names - click the plus to show

This variant has assays on 5 chips - click the plus to 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