RGD:152158482 Rat Genome Database

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Variant: RGD:152158482 -  Homo sapiens

RGD ID: 152158482
RS ID: rs199615378
ClinVar ID: CV1553043
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RBPJ  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 26,388,027
GRCh38 4 26,386,405
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001363577.2:c.-8+14T>G
NM_203283.5:c.-8+14T>G
NM_001379409.1:c.53+14T>G
NM_001374401.1:c.56+14T>G
More... 		10/21/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RBPJ
Accession:NM_203283
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:XM_047415658
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_001363577
Location:5UTRS;INTRON

Gene Symbol:RBPJ
Accession:NM_015874
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001379406
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_017008171
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001374401
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_203284
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001379408
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_047415657
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_011513840
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001379409
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001374400
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001374403
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001374402
Location:INTRON

Gene Symbol:RBPJ
Accession:XM_047415656
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_005349
Location:INTRON

Gene Symbol:RBPJ
Accession:NM_001379407
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002180499 CLINVAR
dbSNP (RS) rs199615378 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RBPJ CLINVAR
OMIM 147183 CLINVAR