GeneBe

VDAC1P8

voltage dependent anion channel 1 pseudogene 8

Basic information

Region (hg38): 6:143490515-143491367

Links

ENSG00000229036 ∙ NCBI:100310840 ∙ ∙ HGNC:37483 ∙ ∙ ∙ 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 VDAC1P8 gene.

  • Inborn genetic diseases (9 variants)
  • Peroxisome biogenesis disorder 10A (Zellweger) (4 variants)
  • not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VDAC1P8 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
12
clinvar
1
clinvar
3
clinvar
 16
Total 0 0 12 1 3

Variants in VDAC1P8

This is a list of pathogenic ClinVar variants found in the VDAC1P8 region.

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

Position Type Phenotype Significance ClinVar
6-143490531-C-T Peroxisome biogenesis disorder 10A (Zellweger) Uncertain significance (Jan 12, 2018)355592
6-143490558-A-G Peroxisome biogenesis disorder 10A (Zellweger) Uncertain significance (Jan 13, 2018)355593
6-143490561-A-G Peroxisome biogenesis disorder 10A (Zellweger) Likely benign (Jan 13, 2018)355594

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP