Original source

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

Alleles
AAC/-
Location

Chromosome 2:219421412-219421414 (forward strand)|View in location tab

Co-located variant

PhenCode HIFD_DES:c.1096_1098delAAC (AAC/-)

Most severe consequence
 
Inframe deletion
Evidence status

Clinical significance

Synonyms

LSDB DES:c.1096_1098delAAC

HGVS names

This variant has 8 HGVS names - Show

About this variant

This variant overlaps 6 transcripts and is associated with 3 phenotypes.

Variant displays