Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC c.-18-3243T>G
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC c.-18-3243T>G ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Familial colorectal cancer
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.-18-3243T>G AND Familial colorectal cancer
- ClinVar Allele ID
- 93692
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.166-14696T>G
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.-18-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.60+13170T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.-1053-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.-43+13705T>G
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.-18-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.-43+13705T>G
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.166-14696T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.166-14696T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.-18-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.-43+13705T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.-18-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.60+13170T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.-18-3243T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.-18-3243T>G
- Clinical Significance Description
- other
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000073790
- ClinVar Disease
- Familial colorectal cancer
- Observed Origin Sample
- unknown
Drugs