Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 p.Tyr1183Ter (p.Y1183*)
(
ENST00000697377.2,
ENST00000697374.1,
ENST00000713774.1,
ENST00000568219.5,
ENST00000697379.2,
ENST00000261584.9,
ENST00000697383.1,
ENST00000697376.1,
ENST00000561514.3,
ENST00000566069.6 )
PALB2 p.Tyr1183Ter (p.Y1183*) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 ) - Associated Disease
- Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3
- Source Database
- ClinVar
- Description
- NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) AND multiple conditions
- ClinVar Allele ID
- 133601
- ClinVar RefSeq Alternation Syntax
- NM_024675.4:c.3549C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763376
- ClinVar Disease
- Fanconi anemia complementation group N
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Pancreatic cancer, susceptibility to, 3
- Observed Origin Sample
- unknown
Drugs