Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Asn1981IlefsTer63 (p.N1981Ifs*63)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Asn1981IlefsTer63 (p.N1981Ifs*63) ( 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.5942del (p.Asn1981fs) AND Familial adenomatous polyposis 1
- ClinVar Allele ID
- 15859
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.5972del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.5942del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.5858del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.5819del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5765del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.5996del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.5942del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5564del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5639del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5669del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.5888del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.5942del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.5867del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.5093del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5462del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1996-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000862
- ClinVar Disease
- Familial adenomatous polyposis 1
- Observed Origin Sample
- germline
- Pubmed
- 8931709
- Pubmed
- 7797123
Drugs