Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Pro648Ser (p.P648S)
(
ENST00000231790.8,
ENST00000435176.5,
ENST00000450420.6,
ENST00000455445.6,
ENST00000456676.7,
ENST00000458205.6,
ENST00000466900.6,
ENST00000485889.2,
ENST00000492474.6,
ENST00000536378.5,
ENST00000539477.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673899.1,
ENST00000673990.2,
ENST00000674019.1,
ENST00000713802.1 )
MLH1 p.Pro648Ser (p.P648S) ( ENST00000231790.8, ENST00000435176.5, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 ) - Associated Disease
- Mismatch repair cancer syndrome 1
- Source Database
- ClinVar
- Description
- NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) AND Mismatch repair cancer syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 15139004
- Pubmed
- 12112654
- ClinVar Allele ID
- 32136
- ClinVar RefSeq Alternation Syntax
- NM_001354624.2:c.868C>T
- ClinVar RefSeq Alternation Syntax
- NM_000249.4:c.1942C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354621.2:c.919C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354630.2:c.1777C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354620.2:c.1648C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354623.2:c.919C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167619.3:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354619.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354629.2:c.1843C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354618.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354626.2:c.868C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167618.3:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354628.2:c.1897-342C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258274.3:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354615.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354625.2:c.868C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354616.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258273.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354617.2:c.1219C>T
- ClinVar RefSeq Alternation Syntax
- NM_001258271.2:c.1896+879C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167617.3:c.1648C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354622.2:c.919C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354627.2:c.868C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001267884
- ClinVar Disease
- Mismatch repair cancer syndrome 1
Drugs