Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC c.221-2A>G
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC c.221-2A>G ( 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.221-2A>G AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 182319
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.251-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407460.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407448.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.146-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407446.1:c.251-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407469.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407449.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407467.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.146-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407453.1:c.44-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407471.1:c.-815-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407447.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.44-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.44-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407451.1:c.146-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407458.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407456.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407457.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407450.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.44-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407459.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.251-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.-815-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407452.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407470.1:c.-815-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407472.1:c.-815-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407455.1:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.221-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.251-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001407454.1:c.221-2A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000163246
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs