Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Lys471AspfsTer19 (p.K471Dfs*19)
(
ENST00000673990.2,
ENST00000231790.8,
ENST00000435176.5,
ENST00000441265.6,
ENST00000450420.6,
ENST00000455445.6,
ENST00000456676.7,
ENST00000458205.6,
ENST00000466900.6,
ENST00000485889.2,
ENST00000492474.6,
ENST00000536378.5,
ENST00000539477.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000674019.1,
ENST00000713802.1 )
MLH1 p.Lys471AspfsTer19 (p.K471Dfs*19) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) AND not provided
- ClinVar Allele ID
- 95201
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.1411_1414del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000481773
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs