Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ala1050GlufsTer6 (p.A1050Efs*6)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ala1050GlufsTer6 (p.A1050Efs*6) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Gastric adenocarcinoma and proximal polyposis of the stomach familial adenomatous polyposis 1 colorectal cancer Gastric cancer hepatocellular carcinoma Desmoid disease, hereditary
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.3149del (p.Ala1050fs) AND multiple conditions
- ClinVar Allele ID
- 181206
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.3203del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2876del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.3149del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.2972del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.3026del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2669del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2846del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2771del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.3179del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.3065del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.3149del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.3074del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.3149del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.3095del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.2300del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003227683
- ClinVar Disease
- Gastric adenocarcinoma and proximal polyposis of the stomach
- ClinVar Disease
- Familial adenomatous polyposis 1
- ClinVar Disease
- Colorectal cancer
- ClinVar Disease
- Desmoid disease, hereditary
- ClinVar Disease
- Hepatocellular carcinoma
- ClinVar Disease
- Gastric cancer
- Observed Origin Sample
- germline
Drugs