RGD:405153861 Rat Genome Database

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Variant: RGD:405153861 -  Homo sapiens

RGD ID: 405153861
ClinVar ID: CV3070676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABBR2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 101,151,306
GRCh38 9 98,389,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005458.8:c.1379-20G>A
NG_161683.1:g.317C>T
NG_016426.1:g.325174G>A
NC_000009.12:g.98389024C>T
More... 		12/23/2023 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3070676Humangeneralized epilepsy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3070676HumanEpileptic encephalopathy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532
Gene Symbol:GABBR2
Accession:NM_005458
Location:INTRON

Gene Symbol:GABBR2
Accession:XM_005252316
Location:INTRON

Gene Symbol:GABBR2
Accession:XM_017015331
Location:INTRON

Gene Symbol:GABBR2
Accession:XM_017015332
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003756508 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene GABBR2 CLINVAR
OMIM 607340 CLINVAR