RGD:8592596 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:8592596 -  Homo sapiens

RGD ID: 8592596
RS ID: rs267607871
ClinVar ID: CV95406
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MLH1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 37,090,006
GRCh38 3 37,048,515
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_216t1:c.1897-2A>G
LRG_216:g.60166A>G
NC_000003.12:g.37048515A>G
NC_000003.11:g.37090006A>G
More... 		02/27/2022 intron|intron variant|splice acceptor variant|splice-3 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; Cancer predisposition; CHILDHOOD CANCER SYNDROME; COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2; Colorectal cancer, hereditary nonpolyposis, type 2; Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 2; Lynch syndrome II; MISMATCH REPAIR DEFICIENCY; MLH1-Related Lynch Syndrome; MLH1-Related Muir-Torre Syndrome; MMR DEFICIENCY; MSH2-Related Muir-Torre Syndrome; Muir-Torre syndrome; Muir-Torré syndrome; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MLH1
Accession:NM_001354630
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258273
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448154
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258274
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354626
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354622
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354624
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354625
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001167618
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354619
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354628
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354621
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354617
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354620
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354615
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448155
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354623
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354616
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448152
Location:INTRON

Gene Symbol:MLH1
Accession:NM_000249
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001258271
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354629
Location:INTRON

Gene Symbol:MLH1
Accession:XM_005265161
Location:INTRON

Gene Symbol:MLH1
Accession:XM_047448153
Location:INTRON

Gene Symbol:MLH1
Accession:NM_001354627
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15345113   PMID:25741868   PMID:27363726   PMID:27978560   PMID:28135145   PMID:28492532   PMID:30720243   PMID:33191490  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000075411 CLINVAR
  RCV000487325 CLINVAR
  RCV000524638 CLINVAR
  RCV000570210 CLINVAR
  RCV000662785 CLINVAR
  RCV000763104 CLINVAR
  RCV001844029 CLINVAR
dbSNP (RS) rs267607871 CLINVAR
MedGen C0009405 CLINVAR
  C0027672 CLINVAR
  C1333991 CLINVAR
  C3661900 CLINVAR
  C4552100 CLINVAR
  C5399763 CLINVAR
  CN169374 CLINVAR
NCBI Gene MLH1 CLINVAR
OMIM 120436 CLINVAR
  158320 CLINVAR
  276300 CLINVAR
  609310 CLINVAR
SNOMED CT 403824007 CLINVAR
  699346009 CLINVAR