Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Arg332Ter (p.R332*)
(
ENST00000507379.6,
ENST00000257430.9,
ENST00000504915.3,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Arg332Ter (p.R332*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Familial multiple polyposis syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.994C>T (p.Arg332Ter) AND Familial multiple polyposis syndrome
- ClinVar Allele ID
- 182339
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.994C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.145C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.994C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.1024C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.817C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.994C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.940C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.919C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.859-243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.964-243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.910C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.994C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.757-243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.934-243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.817C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-04-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000503333
- ClinVar Disease
- Familial multiple polyposis syndrome
- Observed Origin Sample
- germline
Drugs