Annotation Detail

Information
Associated Genes
MLH3
Associated Variants
MLH3 p.Pro844Leu (p.P844L) ( ENST00000380968.6, ENST00000355774.7, ENST00000556257.5 )
MLH3 p.Pro844Leu (p.P844L) ( ENST00000355774.7, ENST00000380968.6, ENST00000556257.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) AND not provided
ClinVar Allele ID
255064
ClinVar RefSeq Alternation Syntax
NM_001040108.2:c.2531C>T
ClinVar RefSeq Alternation Syntax
NM_014381.3:c.2531C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-06-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001711553
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs