RGD:13791519 Rat Genome Database

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Variant: RGD:13791519 -  Homo sapiens

RGD ID: 13791519
RS ID: rs753389263
ClinVar ID: CV548609
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: ACADVL  DLG4  
Reference Nucleotide: -
Variant Nucleotide: GGCGTCCTGCACGCCCGCGTCCTGCACGCC
Position
Assembly Chr Position
GRCh37 17 7,123,241
GRCh38 17 7,219,922
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000018.3:c.-49_-48ins30
NM_001270447.2:c.132-186_132-185insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
NM_001033859.2:c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
NC_000017.10:g.7123241_7123242insGGCGTGCAGGACGCGGGCGTGCAGGACGCC
More... 		04/04/2018 5 prime utr variant|intron variant uncertain significance VLCAD deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DLG4
Accession:NM_001365
Location:5UTRS;EXON

Gene Symbol:DLG4
Accession:NM_001321074
Location:5UTRS;EXON

Gene Symbol:DLG4
Accession:NR_135527
Location:EXON;NON-CODING

Gene Symbol:ACADVL
Accession:NM_001033859
Location:INTRON

Gene Symbol:ACADVL
Accession:XM_011523829
Location:INTRON

Gene Symbol:DLG4
Accession:NM_001369566
Location:INTRON

Gene Symbol:ACADVL
Accession:NM_000018
Location:INTRON

Gene Symbol:ACADVL
Accession:NM_001270447
Location:INTRON

Gene Symbol:ACADVL
Accession:XM_047435932
Location:INTRON

Gene Symbol:DLG4
Accession:NM_001128827
Location:INTRON

Gene Symbol:DLG4
Accession:NM_001321075
Location:INTRON

Gene Symbol:ACADVL
Accession:XM_011523830
Location:INTRON

Gene Symbol:DLG4
Accession:NM_001321077
Location:INTRON

Gene Symbol:DLG4
Accession:NM_001321076
Location:INTRON

Gene Symbol:ACADVL
Accession:XM_047435931
Location:INTRON

Gene Symbol:ACADVL
Accession:NM_001270448
Location:INTRON

Gene Symbol:ACADVL
Accession:XM_006721516
Location:INTRON

Gene Symbol:ACADVL
Accession:XR_007065296
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000667551 CLINVAR
dbSNP (RS) rs753389263 CLINVAR
MedGen C3887523 CLINVAR
NCBI Gene ACADVL CLINVAR
  DLG4 CLINVAR
OMIM 201475 CLINVAR
  602887 CLINVAR
  609575 CLINVAR
SNOMED CT 237997005 CLINVAR