Original source

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

Alleles
G/A|Ambiguity code: R
Location

Chromosome 22:36282754 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CD080870, CM002375

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_002473.4:c.5797C>T, 4230

HGVS names

This variant has 6 HGVS names - Show

About this variant

This variant overlaps 5 transcripts, is associated with 5 phenotypes and is mentioned in 3 citations.

Variant displays