RGD:11089758 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:11089758 -  Homo sapiens

RGD ID: 11089758
RS ID: rs267607780
ClinVar ID: CV232903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 37,053,593
GRCh38 3 37,012,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_216t1:c.677+3A>T
LRG_216:g.23753A>T
NG_007109.2:g.23753A>T
NC_000003.12:g.37012102A>T
More... 		07/17/2023 intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity adult Cancer predisposition; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome II; MLH1-Related Lynch Syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001354627
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354623
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354626
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354622
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354624
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354625
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354621
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:5UTRS;INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12655562   PMID:24090359   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000215214 CLINVAR
  RCV003454619 CLINVAR
dbSNP (RS) rs267607780 CLINVAR
MedGen C0027672 CLINVAR
  C1333991 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
  609310 CLINVAR
SNOMED CT 699346009 CLINVAR