NCF1C
Basic information
Region (hg38): 7:75156639-75172044
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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:
dbNSFP
Source:
- 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