Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Asn1830LysfsTer32 (p.N1830Kfs*32)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Asn1830LysfsTer32 (p.N1830Kfs*32) ( 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.5490_5493del (p.Asn1830fs) AND Familial adenomatous polyposis 1
- ClinVar Allele ID
- 180211
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.5490_5493del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5112_5115del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.5520_5523del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.5490_5493del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.5436_5439del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.5367_5370del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.5490_5493del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.5544_5547del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5010_5013del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.4641_4644del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5187_5190del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.5406_5409del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5313_5316del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.5415_5418del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5217_5220del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003534418
- ClinVar Disease
- Familial adenomatous polyposis 1
- Observed Origin Sample
- germline
Drugs