Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Val1822Asp (p.V1822D)
(
ENST00000512211.7,
ENST00000507379.6,
ENST00000508376.6,
ENST00000504915.3,
ENST00000257430.9,
ENST00000509732.6,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Val1822Asp (p.V1822D) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Classic or attenuated familial adenomatous polyposis
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.5465T>A (p.Val1822Asp) AND Classic or attenuated familial adenomatous polyposis
- ClinVar Allele ID
- 33882
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.5381T>A
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.5411T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.5342T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5087T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.4985T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.5495T>A
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.5465T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.5465T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5288T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5192T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.5390T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5162T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.4616T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.5519T>A
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.5465T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003996112
- ClinVar Disease
- Classic or attenuated familial adenomatous polyposis
- Observed Origin Sample
- germline
Drugs