RGD:38495962 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:38495962 -  Homo sapiens

RGD ID: 38495962
RS ID: rs1563873580
ClinVar ID: CV945829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EXT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 118,819,491
GRCh38 8 117,807,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_493t1:c.1848C>G
NM_000127.3:c.1848C>G
LRG_493:g.309568C>G
NG_007455.2:g.309568C>G
More... 		11/05/2019 nonsense pathogenic Hereditary multiple exostoses; Hereditary multiple exostosis; Hereditary multiple osteochondromas; MULTIPLE CARTILAGINOUS EXOSTOSES; Multiple exostoses; MULTIPLE OSTEOCHONDROMAS
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:EXT1
Accession:NM_000127
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 616
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHI
SPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDT
LDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYE
KYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDK
ILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDA
VLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTND*SMVLTGAAIYHKYYHYLYSHYLPA
SLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL*
Variant Samples
Additional References at PubMed
PMID:10679937   PMID:11391482   PMID:19810120   PMID:25741868   PMID:28492532   PMID:28690282  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001226097 CLINVAR
  RCV003393898 CLINVAR
dbSNP (RS) rs1563873580 CLINVAR
MedGen C0015306 CLINVAR
NCBI Gene EXT1 CLINVAR
OMIM 133700 CLINVAR
  608177 CLINVAR
SNOMED CT 254044004 CLINVAR