Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Val7= (p.V7=)
(
ENST00000456676.7,
ENST00000536378.5,
ENST00000231790.8,
ENST00000450420.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000713802.1 )
MLH1 p.Val7= (p.V7=) ( ENST00000231790.8, ENST00000450420.6, ENST00000456676.7, ENST00000536378.5, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000713802.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.21T>C (p.Val7=) AND not specified
- ClinVar Allele ID
- 367399
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.-1054T>C
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.-925T>C
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.-1075T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.-606T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.-1033T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.-698T>C
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.-838T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.-1136T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.-606T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.-801T>C
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.21T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.21T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.-1023T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.21T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.21T>C
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.-496T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.-806T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.-704T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.-930T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.-264T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.-1045T>C
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.-612T>C
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.21T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-07-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000426260
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs