RGD:155916581 Rat Genome Database

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Variant: RGD:155916581 -  Homo sapiens

RGD ID: 155916581
ClinVar ID: CV2156129
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABBR2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 101,216,253
GRCh38 9 98,453,971
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_016426.1:g.260227A>T
NC_000009.12:g.98453971T>A
NC_000009.11:g.101216253T>A
NM_005458.8:c.1236+10A>T
 02/02/2022 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2156129Humangeneralized epilepsy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2156129HumanEpileptic encephalopathy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532
Gene Symbol:GABBR2
Accession:XM_017015332
Location:INTRON

Gene Symbol:GABBR2
Accession:XM_005252316
Location:INTRON

Gene Symbol:GABBR2
Accession:XM_017015331
Location:INTRON

Gene Symbol:GABBR2
Accession:NM_005458
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002991689 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene GABBR2 CLINVAR
OMIM 607340 CLINVAR