RGD:8654417 Rat Genome Database

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Variant: RGD:8654417 -  Homo sapiens

RGD ID: 8654417
RS ID: rs76224909
ClinVar ID: CV131927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRIP  ATRIP  TREX1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 48,508,961
GRCh38 3 48,467,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
AF319569.1:c.907A>C
NC_000003.12:g.48467562A>C
NC_000003.11:g.48508961A>C
NR_153405.1:n.4216A>C
More... 		01/30/2018 3 prime utr variant|500b downstream variant|missense variant|neargene-3 pathogenic|uncertain significance|not provided neonatal/infancy 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_032166
Location:3UTRS;EXON

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

Gene Symbol:ATRIP
Accession:NM_001271022
Location:3UTRS;EXON

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

Gene Symbol:TREX1
Accession:NM_033629
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPA
ASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALK
ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVAPLYGLSLATPGE*

Gene Symbol:TREX1
Accession:NM_007248
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTA
VLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSE
HGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTT
TAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVAPLYGLSLATPGE*

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

Variant Samples
Additional References at PubMed
PMID:17846997   PMID:21270825   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114335 CLINVAR
  RCV002513943 CLINVAR
  RCV003237442 CLINVAR
dbSNP (RS) rs76224909 CLINVAR
MedGen C0796126 CLINVAR
  C3661900 CLINVAR
NCBI Gene 111822955 CLINVAR
  ATRIP CLINVAR
  TREX1 CLINVAR
OMIM 192315 CLINVAR
  225750 CLINVAR
  606605 CLINVAR
  606609 CLINVAR
  610448 CLINVAR