Original source

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

Alleles
C/A|Ancestral: C|Ambiguity code: M|MAF: 0.02 (A)
Location

Chromosome 22:23285051 (forward strand)|View in location tab

Co-located variant

COSMIC COSM5020844

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_041885

HGVS names

This variant has 10 HGVS names - Show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip, Illumina_HumanOmni5

About this variant

This variant overlaps 7 transcripts, 1 regulatory feature, has 2505 sample genotypes and is mentioned in 1 citation.

Variant displays