Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ser1861Ter (p.S1861*)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ser1861Ter (p.S1861*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- familial adenomatous polyposis 1
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) AND Familial adenomatous polyposis 1
- ClinVar Allele ID
- 15860
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.5582_5585del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.5459_5462del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.5528_5531del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.5498_5501del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5405_5408del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5102_5105del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.4733_4736del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.5612_5615del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5309_5312del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.5582_5585del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.5582_5585del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5204_5207del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5279_5282del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.5636_5639del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.5507_5510del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003534304
- ClinVar Disease
- Familial adenomatous polyposis 1
- Observed Origin Sample
- germline
Drugs