Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ser2125AspfsTer13 (p.S2125Dfs*13)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ser2125AspfsTer13 (p.S2125Dfs*13) ( 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.6373_6376del (p.Ser2125fs) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 152214
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.6373_6376del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.6403_6406del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5995_5998del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.6427_6430del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.6196_6199del
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.6100_6103del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.6070_6073del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.6373_6376del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.5524_5527del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.6298_6301del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.6250_6253del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.6289_6292del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.6319_6322del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5893_5896del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.6373_6376del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-05-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000131645
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs