RGD:13435280 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:13435280 -  Homo sapiens

RGD ID: 13435280
RS ID: rs1555582065
ClinVar ID: CV431537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATXN7L3-AS1  UBTF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,290,219
GRCh38 17 44,212,851
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001076684.3:c.628G>A
NG_029864.1:g.13776G>A
NC_000017.11:g.44212851C>T
NC_000017.10:g.42290219C>T
More... 		05/27/2020 missense variant pathogenic|likely pathogenic|uncertain significance|not provided NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBTF
Accession:NM_001076683
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVR
KFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMK
YIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHKKKVYLKVRPDEIMRDYIQKHPELNISEEGI
TKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVE
LLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESEL
TRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEM
TWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERM
VEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSES
EEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGD
SSDSDSN*

Gene Symbol:UBTF
Accession:NM_014233
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVR
KFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMK
YIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHKKKVYLKVRPDATTKEVKDSLGKQWSQLSDK
KRLKWIHKALEQRKEYEEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVP
STERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGG
KGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGK
LPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKK
MKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQ
DRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESED
GDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGDSSDSDSN*

Gene Symbol:UBTF
Accession:NM_001076684
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEISNEVR
KFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKYKELPEKKKMK
YIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHKKKVYLKVRPDEIMRDYIQKHPELNISEEGI
TKSTLTKAERQLKDKFDGRPTKPPPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVE
LLRFLESLPEEEQQRVLGEEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESEL
TRLLARMWNDLSEKKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEM
TWNNMEKKEKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERM
VEIGSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKSES
EEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSSSSSSSGD
SSDSDSN*

Gene Symbol:UBTF
Accession:NR_045058
Location:EXON;NON-CODING

Gene Symbol:ATXN7L3-AS1
Accession:NR_184071
Location:INTRON;NON-CODING

Gene Symbol:ATXN7L3-AS1
Accession:NR_184072
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28191890   PMID:28777933   PMID:29300972   PMID:30517966   PMID:31931739   PMID:33026538  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000504592 CLINVAR
  RCV000505522 CLINVAR
  RCV000625527 CLINVAR
  RCV000845031 CLINVAR
  RCV001195293 CLINVAR
  RCV001265907 CLINVAR
  RCV001420236 CLINVAR
  RCV001566123 CLINVAR
dbSNP (RS) rs1555582065 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4540086 CLINVAR
  C5681780 CLINVAR
NCBI Gene ATXN7L3-AS1 CLINVAR
  UBTF CLINVAR
OMIM 600673 CLINVAR
  617672 CLINVAR
OMIM Allele 600673.0001 CLINVAR