Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Arg876Ter (p.R876*)
(
ENST00000512211.7,
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Arg876Ter (p.R876*) ( ENST00000713639.1, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000257430.9, ENST00000504915.3, ENST00000507379.6 ) - Associated Disease
- Carcinoma of colon
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.2626C>T (p.Arg876Ter) AND Carcinoma of colon
- ClinVar Allele ID
- 212414
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.2626C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.2626C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.2353C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.2680C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.2248C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.2572C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.2626C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.2551C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.2449C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.2146C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.2542C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.2503C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.1777C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.2656C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.2323C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000500904
- ClinVar Disease
- Carcinoma of colon
- Observed Origin Sample
- unknown
Drugs