GeneBe

AGK-DT

AGK divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 7:141499913-141551345

Links

ENSG00000261570 ∙ NCBI:105375538 ∙ ∙ HGNC:55356 ∙ ∙ ∙ 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 AGK-DT gene.

  • not provided (1 variants)
  • Sengers syndrome (1 variants)
  • Developmental cataract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGK-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
1
clinvar
 2
Total 0 0 1 0 1

Variants in AGK-DT

This is a list of pathogenic ClinVar variants found in the AGK-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
7-141551244-C-G Benign (Dec 21, 2021)1329639
7-141551287-G-A Sengers syndrome • Developmental cataract Uncertain significance (Jun 14, 2016)359050
7-141551310-G-A Sengers syndrome • Developmental cataract Uncertain significance (Jun 14, 2016)359051

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP