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

Co-located variant

HGMD-PUBLIC CM990859

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 1695

HGVS names

This variant has 18 HGVS names - Show

About this variant

This variant overlaps 26 transcripts, has 2504 sample genotypes and is associated with 2 phenotypes.

Variant displays