This variant has been flagged

None of the variant alleles match the reference allele (C)

Original source

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

A/G | Ancestral: C | Ambiguity code: R
Note: The reference base for this variant (A) does not match the Ensembl reference base (C) at this location.

Chromosome 22:50529579 (forward strand) | View in location tab


with HGMD-PUBLIC CM024595

Most severe consequence
Missense variant
Evidence status


This variant has 3 synonyms - Show

HGVS names

This variant has 40 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 54 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 1 phenotype.

Variant displays