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

Alleles
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.
Location

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

Co-located variant

HGMD-PUBLIC CM024595

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 36 HGVS names - Show

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 52 transcripts, 1 regulatory feature, has 1 sample genotype and is associated with 1 phenotype.

Variant displays