Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 22:40346563 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990115

Most severe consequence
 
Missense variant
Evidence status

Synonyms

Uniprot VAR_016930

This variant has 18 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 10 transcripts, 1 regulatory feature, has 2504 sample genotypes and is associated with 1 phenotype.

Variant displays