RGD:10450106 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:10450106 -  Homo sapiens

RGD ID: 10450106
RS ID: rs782726390
ClinVar ID: CV214997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SURF1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 136,221,814
GRCh38 9 133,354,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008477.1:g.6548A>G
NC_000009.12:g.133354959T>C
NC_000009.11:g.136221814T>C
NM_001280787.1:c.-221-2A>G
More... 		11/01/2018 splice acceptor variant pathogenic childhood <1 / 1 000 000 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K; CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SURF1
Accession:NM_001280787
Location:5UTRS;INTRON

Gene Symbol:SURF1
Accession:NM_003172
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24027061  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202482 CLINVAR
  RCV001090696 CLINVAR
dbSNP (RS) rs782726390 CLINVAR
MedGen C3661900 CLINVAR
  C4225246 CLINVAR
NCBI Gene SURF1 CLINVAR
OMIM 185620 CLINVAR
  616684 CLINVAR
OMIM Allele 185620.0016 CLINVAR