GeneBe

STK4-DT

STK4 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 20:44963794-44966959

Previous symbols: [ "STK4-AS1" ]

Links

ENSG00000227477 ∙ NCBI:100505826 ∙ ∙ HGNC:43811 ∙ ∙ ∙ 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 STK4-DT gene.

  • Combined immunodeficiency due to STK4 deficiency (3 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK4-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
3
clinvar
 4
Total 0 0 1 3 0

Variants in STK4-DT

This is a list of pathogenic ClinVar variants found in the STK4-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
20-44966567-C-G Likely benign (Aug 01, 2024)2578909
20-44966597-C-T Combined immunodeficiency due to STK4 deficiency Uncertain significance (Jan 16, 2022)2192104
20-44966611-G-A Combined immunodeficiency due to STK4 deficiency Likely benign (Mar 27, 2023)2972893
20-44966611-G-T Combined immunodeficiency due to STK4 deficiency Likely benign (May 11, 2023)1154090
20-44966611-GC-TT Combined immunodeficiency due to STK4 deficiency Likely benign (Jul 08, 2023)1114493

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP