Original source

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

HGMD-PUBLIC CM990115

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

Uniprot VAR_016930

HGVS names

This variant has 18 HGVS names - 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 2 phenotypes.

Variant displays