RGD:8691999 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:8691999 -  Homo sapiens

RGD ID: 8691999
RS ID: rs587781041
ClinVar ID: CV141965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MSH6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 48,033,904
GRCh38 2 47,806,765
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_219t1:c.4002-14T>C
LRG_219:g.28619T>C
NG_007111.1:g.28619T>C
NC_000002.12:g.47806765T>C
More... 		03/29/2023 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adult AllHighlyPenetrant; Cancer predisposition; Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Hereditary non-polyposis colorectal cancer, type 5; Neoplastic Syndromes, Hereditary; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSH6
Accession:NM_001406800
Location:3UTRS;INTRON

Gene Symbol:MSH6
Accession:NM_000179
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281493
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281492
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001281494
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406809
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406796
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406811
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406805
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406795
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406802
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406813
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406807
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406814
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406808
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406798
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406803
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406817
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001407362
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406812
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406799
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406816
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406804
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406797
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406801
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406806
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406815
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406818
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406821
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406828
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406826
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406825
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406819
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406822
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406829
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406827
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406824
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406820
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406823
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406830
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406832
Location:INTRON

Gene Symbol:MSH6
Accession:NM_001406831
Location:INTRON

Gene Symbol:MSH6
Accession:NR_176259
Location:INTRON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176257
Location:INTRON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176258
Location:INTRON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176261
Location:INTRON;NON-CODING

Gene Symbol:MSH6
Accession:NR_176256
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20682701   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126837 CLINVAR
  RCV000409445 CLINVAR
  RCV000776217 CLINVAR
dbSNP (RS) rs587781041 CLINVAR
MedGen C0027672 CLINVAR
  C1833477 CLINVAR
  CN169374 CLINVAR
NCBI Gene MSH6 CLINVAR
OMIM 600678 CLINVAR
  614350 CLINVAR
SNOMED CT 699346009 CLINVAR