Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ile1557Ter (p.I1557*)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6 )
APC p.Ile1557Ter (p.I1557*) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 182406
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.4396_4397del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.4699_4700del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.4615_4616del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.4669_4670del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.4669_4670del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.4189_4190del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.3820_3821del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.4366_4367del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.4723_4724del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.4492_4493del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.4594_4595del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.4291_4292del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.4585_4586del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.4546_4547del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.4669_4670del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000162703
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs