GeneBe

SCAND2P

SCAN domain containing 2 pseudogene

Basic information

Previous symbols: [ "SCAND2" ]

Links

ENSG00000176700 ∙ NCBI:54581 ∙ OMIM:610417 ∙ HGNC:10567 ∙ Uniprot:Q9GZW5 ∙ AlphaFold ∙ 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 SCAND2P gene.

  • not provided (86 variants)
  • Galloway-Mowat syndrome 1 (35 variants)
  • Inborn genetic diseases (13 variants)
  • not specified (2 variants)
  • Nephrotic syndrome (2 variants)
  • Dystonic disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCAND2P 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
9
clinvar
10
clinvar
45
clinvar
30
clinvar
14
clinvar
 108
Total 9 10 45 30 14

Highest pathogenic variant AF is 0.0000131

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

Biological process
regulation of transcription, DNA-templated;biological_process
Cellular component
cellular_component;nucleus
Molecular function
molecular_function;DNA-binding transcription factor activity