Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Pro28Leu (p.P28L)
(
ENST00000231790.8,
ENST00000536378.5,
ENST00000456676.7,
ENST00000450420.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Pro28Leu (p.P28L) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 95862
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-544C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-961C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-863C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1074C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-434C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-739C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-776C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-971C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-868C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-983C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1013C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-544C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-744C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-636C>T
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-550C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-202C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.83C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-992C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-642C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000160552
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs