Annotation Detail
Information
- Associated Genes
- NCF4 NCF4-AS1
- Associated Variants
-
NCF4 c.32+1258T>C
(
ENST00000248899.11,
ENST00000397147.7,
ENST00000650827.1 )
NCF4 c.32+1258T>C ( ENST00000248899.11, ENST00000397147.7, ENST00000650827.1 ) - Associated Disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Source Database
- ClinVar
- Description
- NM_000631.5(NCF4):c.32+1258T>C AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- ClinVar Allele ID
- 1159140
- ClinVar RefSeq Alternation Syntax
- NM_000631.5:c.32+1258T>C
- ClinVar RefSeq Alternation Syntax
- NM_013416.4:c.32+1258T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001511733
- ClinVar Disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- Observed Origin Sample
- germline
Drugs