Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Asp849GlufsTer11 (p.D849Efs*11)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Asp849GlufsTer11 (p.D849Efs*11) ( ENST00000713638.1, ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713639.1 ) - Associated Disease
- APC-related disorder
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.2547_2550del (p.Asp849fs) AND APC-related disorder
- ClinVar Allele ID
- 98253
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2274_2277del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.2547_2550del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.2547_2550del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.2577_2580del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2067_2070del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.2493_2496del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.1698_1701del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.2463_2466del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2244_2247del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.2472_2475del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.2370_2373del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.2424_2427del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.2547_2550del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.2601_2604del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2169_2172del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-02-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003894926
- ClinVar Disease
- APC-related disorder
- Observed Origin Sample
- germline
Drugs