Annotation Detail
Information
- Associated Genes
- MUTYH TOE1
- Associated Variants
-
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T
(
ENST00000372090.6,
ENST00000372110.7,
ENST00000710952.2,
ENST00000529892.6,
ENST00000372098.7,
ENST00000672818.3,
ENST00000372115.7,
ENST00000529984.5 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 ) - Associated Disease
- familial adenomatous polyposis 2
- Source Database
- ClinVar
- Description
- NM_025077.4(TOE1):c.52+77G>A AND Familial adenomatous polyposis 2
- ClinVar Allele ID
- 419304
- ClinVar RefSeq Alternation Syntax
- NM_001407073.1:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350651.2:c.-376C>T
- ClinVar RefSeq Alternation Syntax
- NM_001128425.2:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NR_176269.1:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NR_176274.1:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407070.1:c.-185C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407071.1:c.-185C>T
- ClinVar RefSeq Alternation Syntax
- NM_012222.3:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293190.2:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001048171.2:c.-169C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407069.1:c.-127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407072.1:c.-165C>T
- ClinVar RefSeq Alternation Syntax
- NM_025077.4:c.52+77G>A
- ClinVar RefSeq Alternation Syntax
- NR_146882.2:n.60C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350650.2:c.-440C>T
- ClinVar RefSeq Alternation Syntax
- NM_001293192.2:c.-381C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2023-11-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001097391
- ClinVar Disease
- Familial adenomatous polyposis 2
- Observed Origin Sample
- germline
Drugs