Original source

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

C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (T)

Chromosome 21:42383168 (forward strand) | View in location tab


with HGMD-PUBLIC CM054158

Most severe consequence
Missense variant
Evidence status

Clinical significance


This variant has 3 synonyms - Show

HGVS names

This variant has 24 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_HumanOmni5

About this variant

This variant overlaps 16 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays