RGD:10406007 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:10406007 -  Homo sapiens

RGD ID: 10406007
RS ID: rs375494746
ClinVar ID: CV212071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 12,064,993
GRCh38 1 12,004,936
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_255t1:c.1495+9C>T
LRG_255:g.29756C>T
NG_007945.1:g.29756C>T
NC_000001.11:g.12004936C>T
More... 		11/28/2020 intron variant benign|likely benign AllHighlyPenetrant; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth, Type 2; none provided; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MFN2
Accession:NM_014874
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436149
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436154
Location:INTRON

Gene Symbol:MFN2
Accession:XM_047436156
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263548
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263545
Location:INTRON

Gene Symbol:MFN2
Accession:XM_005263543
Location:INTRON

Gene Symbol:MFN2
Accession:NM_001127660
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000200474 CLINVAR
  RCV000602029 CLINVAR
  RCV001084918 CLINVAR
  RCV001096242 CLINVAR
  RCV001173016 CLINVAR
dbSNP (RS) rs375494746 CLINVAR
MedGen C0007959 CLINVAR
  C0270914 CLINVAR
  C0393807 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MFN2 CLINVAR
OMIM 601152 CLINVAR
  608507 CLINVAR
SNOMED CT 128203003 CLINVAR
  50548001 CLINVAR