Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ile2043GlnfsTer25 (p.I2043Qfs*25)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ile2043GlnfsTer25 (p.I2043Qfs*25) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- familial adenomatous polyposis 1
- Source Database
- ClinVar
- Description
- NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) AND Familial adenomatous polyposis 1
- ClinVar Allele ID
- 182437
- ClinVar RefSeq Alternation Syntax
- NM_001354902.2:c.5853_5868del
- ClinVar RefSeq Alternation Syntax
- NM_001354899.2:c.6042_6057del
- ClinVar RefSeq Alternation Syntax
- NM_001127511.3:c.6072_6087del
- ClinVar RefSeq Alternation Syntax
- NM_001354898.2:c.6051_6066del
- ClinVar RefSeq Alternation Syntax
- NM_001354905.2:c.5646_5661del
- ClinVar RefSeq Alternation Syntax
- NM_001127510.3:c.6126_6141del
- ClinVar RefSeq Alternation Syntax
- NM_001354900.2:c.6003_6018del
- ClinVar RefSeq Alternation Syntax
- NM_000038.6:c.6126_6141del
- ClinVar RefSeq Alternation Syntax
- NM_001354895.2:c.6126_6141del
- ClinVar RefSeq Alternation Syntax
- NM_001354903.2:c.5823_5838del
- ClinVar RefSeq Alternation Syntax
- NM_001354904.2:c.5748_5763del
- ClinVar RefSeq Alternation Syntax
- NM_001354896.2:c.6180_6195del
- ClinVar RefSeq Alternation Syntax
- NM_001354901.2:c.5949_5964del
- ClinVar RefSeq Alternation Syntax
- NM_001354906.2:c.5277_5292del
- ClinVar RefSeq Alternation Syntax
- NM_001354897.2:c.6156_6171del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003337242
- ClinVar Disease
- Familial adenomatous polyposis 1
- Observed Origin Sample
- unknown
Drugs