Original source

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

Alleles
C/T|Ambiguity code: Y
Location

Chromosome 22:36284474 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM002374

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4231, NM_002473.4:c.5521G>A

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays