Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 22:50527612 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053844

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1703

This variant has 20 HGVS names - click the plus to show

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 31 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays