RGD:13615507 Rat Genome Database

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Variant: RGD:13615507 -  Homo sapiens

RGD ID: 13615507
RS ID: rs754998766
ClinVar ID: CV519366
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRIP  ATRIP  TREX1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 48,508,641
GRCh38 3 48,467,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009820.2:g.6413C>T
NC_000003.12:g.48467242C>T
NC_000003.11:g.48508641C>T
NM_033629.4:c.587C>T
More... 		12/04/2017 3 prime utr variant|missense variant uncertain significance 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_130384
Location:3UTRS;EXON

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

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

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

Gene Symbol:TREX1
Accession:NM_007248
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTA
VLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSE
HGPRKSYSLGSIYTRLYGQSPPDSHMAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTT
TAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:TREX1
Accession:NM_033629
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQALPPGPMQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPA
ASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALK
ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHMAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000644053 CLINVAR
dbSNP (RS) rs754998766 CLINVAR
MedGen C0796126 CLINVAR
NCBI Gene 111822955 CLINVAR
  ATRIP CLINVAR
  TREX1 CLINVAR
OMIM 192315 CLINVAR
  225750 CLINVAR
  606605 CLINVAR
  606609 CLINVAR
  610448 CLINVAR