Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Pro349Ala (p.P349A)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713860.1,
ENST00000713861.1,
ENST00000713919.1 )
MSH2 p.Pro349Ala (p.P349A) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 ) - Associated Disease
- Mismatch repair cancer syndrome 1 Lynch syndrome 1 Muir-Torré syndrome
- Source Database
- ClinVar
- Description
- NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND multiple conditions
- ClinVar Allele ID
- 95987
- ClinVar RefSeq Alternation Syntax
- NM_001258281.1:c.847C>G
- ClinVar RefSeq Alternation Syntax
- NM_000251.3:c.1045C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000764423
- ClinVar Disease
- Lynch syndrome 1
- ClinVar Disease
- Mismatch repair cancer syndrome 1
- ClinVar Disease
- Muir-Torré syndrome
- Observed Origin Sample
- unknown
Drugs