GeneBe

NPHP3-ACAD11

NPHP3-ACAD11 readthrough (NMD candidate)

Basic information

Region (hg38): 3:132558142-132722459

Links

ENSG00000274810 ∙ NCBI:100532724 ∙ ∙ HGNC:48351 ∙ ∙ ∙ 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 NPHP3-ACAD11 gene.

  • Nephronophthisis (818 variants)
  • not provided (490 variants)
  • Nephronophthisis 3 (115 variants)
  • Renal-hepatic-pancreatic dysplasia 1 (112 variants)
  • NPHP3-related Meckel-like syndrome (97 variants)
  • Inborn genetic diseases (95 variants)
  • not specified (62 variants)
  • Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3;NPHP3-related Meckel-like syndrome (50 variants)
  • Nephronophthisis 3;NPHP3-related Meckel-like syndrome;Renal-hepatic-pancreatic dysplasia 1 (36 variants)
  • Developmental and epileptic encephalopathy, 44 (25 variants)
  • Renal-hepatic-pancreatic dysplasia 1;NPHP3-related Meckel-like syndrome;Nephronophthisis 3 (21 variants)
  • Kidney disorder (19 variants)
  • NPHP3-related Meckel-like syndrome;Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3 (19 variants)
  • NPHP3-related condition (15 variants)
  • Meckel-Gruber syndrome (14 variants)
  • Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1;NPHP3-related Meckel-like syndrome (13 variants)
  • NPHP3-related Meckel-like syndrome;Nephronophthisis 3;Renal-hepatic-pancreatic dysplasia 1 (13 variants)
  • Joubert syndrome and related disorders (8 variants)
  • Spinocerebellar ataxia, autosomal recessive 24 (3 variants)
  • NPHP3-related disorders (3 variants)
  • UBA5-related condition (3 variants)
  • Fibrotic kidney disease (2 variants)
  • Developmental and epileptic encephalopathy, 44;Spinocerebellar ataxia, autosomal recessive 24 (2 variants)
  • Enlarged kidney;Multiple renal cysts;Anhydramnios (2 variants)
  • Early infantile epileptic encephalopathy with suppression bursts (1 variants)
  • Focal segmental glomerulosclerosis (1 variants)
  • Bardet-Biedl syndrome (1 variants)
  • See cases (1 variants)
  • Polycystic kidney dysplasia (1 variants)
  • Leber congenital amaurosis (1 variants)
  • UBA5-Related Disorders (1 variants)
  • - (1 variants)
  • Atypical hemolytic-uremic syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPHP3-ACAD11 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
20
clinvar
1
clinvar
 23
missense
1
clinvar
68
clinvar
8
clinvar
1
clinvar
 78
nonsense
4
clinvar
3
clinvar
1
clinvar
 8
start loss
0
frameshift
4
clinvar
3
clinvar
1
clinvar
 8
splice donor/acceptor (+/-2bp)
7
clinvar
12
clinvar
50
clinvar
34
clinvar
5
clinvar
 108
Total 15 19 122 62 7

Highest pathogenic variant AF is 0.00244447

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway
Wnt Signaling in Kidney Disease (Consensus)

Gene ontology

Biological process
Cellular component
kinesin complex
Molecular function
microtubule motor activity