Annotation Detail
Information
- Associated Genes
- NBN
- Associated Variants
-
NBN p.Lys219AsnfsTer16 (p.K219Nfs*16)
(
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.Lys219AsnfsTer16 (p.K219Nfs*16) ( 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
- Breast-ovarian cancer, familial, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_002485.5(NBN):c.657_661del (p.Lys219fs) AND Breast-ovarian cancer, familial, susceptibility to, 1
- ClinVar Allele ID
- 21979
- ClinVar RefSeq Alternation Syntax
- NM_002485.5:c.657_661del
- ClinVar RefSeq Alternation Syntax
- NM_001024688.3:c.411_415del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-04-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007354
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 18940477
- Pubmed
- 12505263
- Pubmed
- 12123493
- Pubmed
- 9590180
- Pubmed
- 10398434
- Pubmed
- 16033915
- Pubmed
- 9620777
- Pubmed
- 11279524
- Pubmed
- 17103455
- Pubmed
- 12833396
- Pubmed
- 10852373
Drugs