Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Ile32Val (p.I32V)
(
ENST00000456676.7,
ENST00000231790.8,
ENST00000536378.5,
ENST00000450420.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Ile32Val (p.I32V) ( 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.94A>G (p.Ile32Val) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 45222
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-533A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-950A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-972A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-728A>G
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-852A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-857A>G
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-423A>G
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-765A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-191A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1063A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.94A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-733A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-960A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-539A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.94A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-533A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1002A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-631A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.94A>G
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.94A>G
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.94A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-625A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-981A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-10-25
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000568967
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs