NCF1C

neutrophil cytosolic factor 1C pseudogene

Basic information

Region (hg38): 7:75156639-75172044

Links

ENSG00000165178NCBI:654817HGNC:32523Uniprot:A8MVU1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NCF1C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NCF1C 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
0
Total 0 0 0 0 0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be required for activation of the latent NADPH oxidase (necessary for superoxide production). {ECO:0000250}.;

Recessive Scores

pRec
0.116

Haploinsufficiency Scores

pHI
0.178
hipred
hipred_score
ghis

Gene ontology

Biological process
superoxide metabolic process;positive regulation of catalytic activity;respiratory burst;oxidation-reduction process
Cellular component
cytosol;NADPH oxidase complex
Molecular function
superoxide-generating NADPH oxidase activity;superoxide-generating NADPH oxidase activator activity;phosphatidylinositol binding;phosphatidylinositol-3,4-bisphosphate binding