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 )
Source Database
ClinVar
Description
NM_002485.5(NBN):c.698_701del (p.Lys233fs) AND Malignant tumor of breast
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 Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001354502
Observed Origin Sample
unknown
Drugs