Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 c.-27C>A
(
ENST00000231790.8,
ENST00000450420.6,
ENST00000456676.7,
ENST00000536378.5,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673899.1 )
MLH1 c.-27C>A ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673899.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.-27C>A AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 95063
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-1101C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-745C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.-27C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-848C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.-27C>A
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.-27C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-311C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-751C>A
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-885C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1183C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-653C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-1080C>A
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-543C>A
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-972C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-1070C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-977C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.-27C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1122C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.-27C>A
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-659C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-1092C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-853C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-653C>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-02-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132376
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs