RGD:25317130 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:25317130 -  Homo sapiens

RGD ID: 25317130
RS ID: rs781051771
ClinVar ID: CV804999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRIP  ATRIP  TREX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 48,508,442
GRCh38 3 48,467,043
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033629.2:c.388G>A
NR_153405.1:n.3697G>A
NM_007248.2:c.358G>A
NP_009179.2:p.Asp120Asn
More... 		11/15/2019 3 prime utr variant likely pathogenic|uncertain significance Cerebroretinal vasculopathy, hereditary; Chilblain lupus 1; CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; none provided; PSEUDOTOXOPLASMOSIS SYNDROME; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena; Vasculopathy, retinal, with cerebral leukodystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATRIP
Accession:NM_001271022
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_001271023
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_130384
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_032166
Location:3UTRS;EXON

Gene Symbol:TREX1
Accession:NM_033629
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPA
ASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYNFPLLQAELAMLGLTSALDGAFCVDSITALK
ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:TREX1
Accession:NM_007248
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTA
VLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYNFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSE
HGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTT
TAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:ATRIP
Accession:NR_153405
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26150267   PMID:28492532   PMID:33892200  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001007852 CLINVAR
  RCV001231973 CLINVAR
  RCV001759687 CLINVAR
dbSNP (RS) rs781051771 CLINVAR
MedGen C0796126 CLINVAR
  CN517202 CLINVAR
NCBI Gene 111822955 CLINVAR
  ATRIP CLINVAR
  TREX1 CLINVAR
OMIM 192315 CLINVAR
  225750 CLINVAR
  606605 CLINVAR
  606609 CLINVAR
  610448 CLINVAR