Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Arg714Ter (p.R714*)
(
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.Arg714Ter (p.R714*) ( 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
- aplastic anemia Acute lymphoid leukemia Microcephaly, normal intelligence and immunodeficiency
- Source Database
- ClinVar
- Description
- NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND multiple conditions
- ClinVar Allele ID
- 180279
- ClinVar RefSeq Alternation Syntax
- NM_001024688.3:c.1894C>T
- ClinVar RefSeq Alternation Syntax
- NM_002485.5:c.2140C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000515171
- ClinVar Disease
- Microcephaly, normal intelligence and immunodeficiency
- ClinVar Disease
- Aplastic anemia
- ClinVar Disease
- Acute lymphoid leukemia
- Observed Origin Sample
- unknown
Drugs