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 22:50528595 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990859

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1695

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

About this variant

This variant overlaps 27 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays