Original source

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

Alleles
G/A/C|Ancestral: G|Ambiguity code: V
Location

Chromosome 22:50625615 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM940111

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 26 HGVS names - Show

About this variant

This variant overlaps 16 transcripts and is associated with 3 phenotypes.

Variant displays