Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Lys233SerfsTer5 (p.K233Sfs*5)
(
ENST00000265433.8,
ENST00000409330.5,
ENST00000517337.2,
ENST00000523444.2,
ENST00000697292.1,
ENST00000697293.1,
ENST00000697298.1,
ENST00000697299.1,
ENST00000697304.1,
ENST00000697307.1,
ENST00000697308.1,
ENST00000697309.1,
ENST00000697310.1 )
NBN p.Lys233SerfsTer5 (p.K233Sfs*5) ( ENST00000265433.8, ENST00000409330.5, ENST00000517337.2, ENST00000523444.2, ENST00000697292.1, ENST00000697293.1, ENST00000697298.1, ENST00000697299.1, ENST00000697304.1, ENST00000697307.1, ENST00000697308.1, ENST00000697309.1, ENST00000697310.1 ) - Associated Disease
- Microcephaly, normal intelligence and immunodeficiency
- Source Database
- ClinVar
- Description
- NM_002485.5(NBN):c.698_701del (p.Lys233fs) AND Microcephaly, normal intelligence and immunodeficiency
- ClinVar Allele ID
- 133335
- ClinVar RefSeq Alternation Syntax
- NM_001024688.3:c.452_455del
- ClinVar RefSeq Alternation Syntax
- NM_002485.5:c.698_701del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000193543
- ClinVar Disease
- Microcephaly, normal intelligence and immunodeficiency
- Observed Origin Sample
- germline
- Pubmed
- 9590180
Drugs