RGD:25327037 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:25327037 -  Homo sapiens

RGD ID: 25327037
RS ID: rs1597868312
ClinVar ID: CV815668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 29,685,642
GRCh38 17 31,358,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_214t1:c.8050+2T>G
NM_000267.3:c.8050+2T>G
NM_001042492.3:c.8113+2T>G
LRG_214:g.268648T>G
More... 		03/15/2022 splice donor variant pathogenic|likely pathogenic Cancer predisposition; Cardiovascular phenotype; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Peripheral type neurofibromatosis; Recklinghausen's disease; Tumor predisposition; Von Recklinghausen disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF1
Accession:NM_000267
Location:INTRON

Gene Symbol:NF1
Accession:NM_001128147
Location:INTRON

Gene Symbol:NF1
Accession:NM_001042492
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10712197   PMID:16199547   PMID:23913538   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001862397 CLINVAR
  RCV002445178 CLINVAR
dbSNP (RS) rs1597868312 CLINVAR
MedGen C0027672 CLINVAR
  C0027831 CLINVAR
NCBI Gene NF1 CLINVAR
OMIM 162200 CLINVAR
  613113 CLINVAR
SNOMED CT 699346009 CLINVAR
  92824003 CLINVAR