This variant has been flagged

Variation has more than 3 different alleles

Original source

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

C/A/G/T | Ancestral: C | Ambiguity code: N

Chromosome 21:25891784 (forward strand) | View in location tab


with HGMD-PUBLIC CM910041, CM910040, CM003587

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 9 synonyms - Show

HGVS names

This variant has 54 HGVS names - Show

About this variant

This variant overlaps 27 transcripts, has 1 sample genotype, is associated with 6 phenotypes and is mentioned in 5 citations.

Variant displays