RGD:155926505 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 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
Advanced Search (OLGA)

Variant: RGD:155926505 -  Homo sapiens

RGD ID: 155926505
ClinVar ID: CV2284904
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENKUR  THNSL1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 25,288,443
GRCh38 10 24,999,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000010.10:g.25288443T>C
NR_072992.2:n.332A>G
NM_145010.2:c.110A>G
NP_659447.1:p.Asp37Gly
More... 		06/24/2022 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:THNSL1
Accession:XM_017016665
Location:5UTRS;INTRON

Gene Symbol:THNSL1
Accession:XM_047425764
Location:5UTRS;INTRON

Gene Symbol:ENKUR
Accession:NM_145010
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKADMQKAKTAMKTMGPAKVEVPSPKDFLKKHSKEKTLPPKKNFDR
NVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICK
RNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIPKKIRKQRLEEEMKQLEHD
IGIIEKHKIIYIANNA*

Gene Symbol:ENKUR
Accession:NR_072992
Location:EXON;NON-CODING

Gene Symbol:THNSL1
Accession:NM_024838
Location:INTRON

Gene Symbol:ENKUR
Accession:NM_001270383
Location:INTRON

Gene Symbol:THNSL1
Accession:XM_005252597
Location:INTRON

Gene Symbol:ENKUR
Accession:NR_072993
Location:INTRON;NON-CODING

.


Database
Acc Id
Source(s)
ClinVar RCV004143353 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENKUR CLINVAR
  THNSL1 CLINVAR
OMIM 611025 CLINVAR
  611260 CLINVAR