GeneBe

APP-DT

APP divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 21:26170871-26217381

Links

ENSG00000273492 ∙ ∙ ∙ HGNC:55075 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the APP-DT gene.

  • Alzheimer disease (2 variants)
  • not provided (2 variants)
  • not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APP-DT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
2
clinvar
1
clinvar
 4
Total 0 0 1 2 1

Variants in APP-DT

This is a list of pathogenic ClinVar variants found in the APP-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
21-26170924-AC-A Benign (Apr 14, 2019)1241577
21-26171136-G-C not specified Uncertain significance (Oct 12, 2023)2637690
21-26171246-G-A Alzheimer disease Conflicting classifications of pathogenicity (Oct 14, 2022)1156848
21-26171301-C-T Alzheimer disease • APP-related disorder Likely benign (Jul 01, 2024)1117397

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP