RGD:8596325 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:8596325 -  Homo sapiens

RGD ID: 8596325
RS ID: rs78846775
ClinVar ID: CV19223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRIP  ATRIP  TREX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 48,508,652
GRCh38 3 48,467,253
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000003.12:g.48467253G>A
NC_000003.11:g.48508652G>A
AAK07616.1:p.Asp200Asn
NP_338599.1:p.Asp200Asn
More... 		03/14/2022 3 prime utr variant|missense|missense variant pathogenic neonatal/infancy Cerebroretinal vasculopathy, hereditary; Chilblain lupus 1; CREE ENCEPHALITIS; ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS; 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_032166
Location:3UTRS;EXON

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

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

Gene Symbol:TREX1
Accession:NM_007248
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTA
VLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSE
HGPRKSYSLGSIYTRLYGQSPPDSHTAEGNVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTT
TAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:TREX1
Accession:NM_033629
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPA
ASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALK
ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGNVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

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

Variant Samples
Additional References at PubMed
PMID:17357087   PMID:18805785   PMID:20131292   PMID:21808053   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004402 CLINVAR
  RCV000114331 CLINVAR
  RCV002512754 CLINVAR
dbSNP (RS) rs78846775 CLINVAR
MedGen C0796126 CLINVAR
  C3150315 CLINVAR
NCBI Gene 111822955 CLINVAR
  ATRIP CLINVAR
  TREX1 CLINVAR
OMIM 192315 CLINVAR
  225750 CLINVAR
  606605 CLINVAR
  606609 CLINVAR
  610448 CLINVAR
OMIM Allele 606609.0006 CLINVAR