RGD:15150648 Rat Genome Database

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Variant: RGD:15150648 -  Homo sapiens

RGD ID: 15150648
RS ID: rs534483974
ClinVar ID: CV777188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RANBP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 109,399,326
GRCh38 2 108,782,870
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006267.5:c.9369+8T>C
NG_012210.1:g.68390T>C
NC_000002.12:g.108782870T>C
NC_000002.11:g.109399326T>C
More... 		05/03/2018 intron variant likely benign Encephalopathy, acute, infection-induced, 3, suceptibility to; Susceptibility to Acute Necrotizing Encephalopathy 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004625
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511576
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_017004624
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415871
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415872
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264007
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511575
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_001415873
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_011511578
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_047445367
Location:INTRON

Gene Symbol:RANBP2
Accession:XM_005264002
Location:INTRON

Gene Symbol:RANBP2
Accession:NM_006267
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470106 CLINVAR
dbSNP (RS) rs534483974 CLINVAR
MedGen C2675556 CLINVAR
NCBI Gene RANBP2 CLINVAR
OMIM 601181 CLINVAR
  608033 CLINVAR