Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Leu698Ter (p.L698*)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Leu698Ter (p.L698*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Gardner syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.2093T>A (p.Leu698Ter) AND Gardner syndrome
- ClinVar Allele ID
- 15871
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.1820T>A
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.2039T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.2018T>A
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.2093T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.1790T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.2123T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.1244T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.1970T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.1613T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.2147T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.1916T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.1715T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.2093T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.2009T>A
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.2093T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000875
- ClinVar Disease
- Gardner syndrome
- Observed Origin Sample
- germline
- Pubmed
- 9916927
Drugs