Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 21:25891855 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920066

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

About this variant

This variant overlaps 9 transcripts, is associated with 5 phenotypes and is mentioned in 5 citations.

Variant displays