RGD:10048516 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:10048516 -  Homo sapiens

RGD ID: 10048516
RS ID: rs2281983
ClinVar ID: CV193565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GBF1  PITX3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 103,991,381
GRCh38 10 102,231,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008147.1:g.14851C>T
NC_000010.11:g.102231624G>A
NC_000010.10:g.103991381G>A
NP_005020.1:p.Ile95=
More... 		04/16/2018 synonymous variant benign AllHighlyPenetrant; Cataract 11; Cataract, posterior polar, 4; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GBF1
Accession:NM_001391924
Location:5UTRS;INTRON

Gene Symbol:GBF1
Accession:NM_001391923
Location:5UTRS;INTRON

Gene Symbol:PITX3
Accession:XM_047425352
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEAT
FQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKA
LAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA
SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVERPV*

Gene Symbol:PITX3
Accession:NM_005029
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFGLLSEAEARSPALSLSDAGTPHPQLPEHGCKGQEHSDSEKASASLPGGSPEDGSLKKKQRRQRTHFTSQQLQELEAT
FQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERSQQAELCKGSFAAPLGGLVPPYEEVYPGYSYGNWPPKA
LAPPLAAKTFPFAFNSVNVGPLASQPVFSPPSSIAASMVPSAAAAPGTVPGPGALQGLGGGPPGLAPAAVSSGAVSCPYA
SAAAAAAAAASSPYVYRDPCNSSLASLRLKAKQHASFSYPAVHGPPPAANLSPCQYAVERPV*

Gene Symbol:GBF1
Accession:XM_011540314
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001377140
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001199378
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425970
Location:INTRON

Gene Symbol:GBF1
Accession:XM_006718047
Location:INTRON

Gene Symbol:GBF1
Accession:XM_017016861
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391926
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391925
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391931
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425969
Location:INTRON

Gene Symbol:GBF1
Accession:XM_011540312
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001377139
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391930
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001411027
Location:INTRON

Gene Symbol:GBF1
Accession:NM_004193
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001377137
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001377141
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425975
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001411003
Location:INTRON

Gene Symbol:GBF1
Accession:XM_006718049
Location:INTRON

Gene Symbol:GBF1
Accession:XM_011540313
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391922
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391928
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425974
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425973
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425972
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391929
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001199379
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001377138
Location:INTRON

Gene Symbol:GBF1
Accession:NM_001391927
Location:INTRON

Gene Symbol:GBF1
Accession:XM_047425971
Location:INTRON

Gene Symbol:GBF1
Accession:NR_165086
Location:INTRON;NON-CODING

Gene Symbol:GBF1
Accession:NR_165089
Location:INTRON;NON-CODING

Gene Symbol:GBF1
Accession:NR_165087
Location:INTRON;NON-CODING

Gene Symbol:GBF1
Accession:NR_165085
Location:INTRON;NON-CODING

Gene Symbol:GBF1
Accession:XR_001747253
Location:INTRON;NON-CODING

Gene Symbol:GBF1
Accession:NR_165088
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000177223 CLINVAR
  RCV000828394 CLINVAR
  RCV001788060 CLINVAR
  RCV001788061 CLINVAR
dbSNP (RS) rs2281983 CLINVAR
MedGen C1864567 CLINVAR
  C3661900 CLINVAR
  C4551992 CLINVAR
  CN169374 CLINVAR
NCBI Gene GBF1 CLINVAR
  PITX3 CLINVAR
OMIM 107250 CLINVAR
  602669 CLINVAR
  603698 CLINVAR
  610623 CLINVAR