Annotation Detail

Information
Associated Genes
MLH3
Associated Variants
MLH3 p.Thr942Ile (p.T942I) ( ENST00000556257.5, ENST00000355774.7, ENST00000380968.6 )
MLH3 p.Thr942Ile (p.T942I) ( ENST00000355774.7, ENST00000380968.6, ENST00000556257.5 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) AND not specified
ClinVar Allele ID
339201
ClinVar RefSeq Alternation Syntax
NM_014381.3:c.2825C>T
ClinVar RefSeq Alternation Syntax
NM_001040108.2:c.2825C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-08-15
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000583593
ClinVar Disease
not specified
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs