Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Leu281Ter (p.L281*)
(
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.Leu281Ter (p.L281*) ( 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.842T>G (p.Leu281Ter) AND Microcephaly, normal intelligence and immunodeficiency
- ClinVar Allele ID
- 188058
- ClinVar RefSeq Alternation Syntax
- NM_001024688.3:c.596T>G
- ClinVar RefSeq Alternation Syntax
- NM_002485.5:c.842T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-15
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000170447
- ClinVar Disease
- Microcephaly, normal intelligence and immunodeficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs