RGD:156265935 Rat Genome Database

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Variant: RGD:156265935 -  Homo sapiens

RGD ID: 156265935
ClinVar ID: CV2189214
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABBR2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 101,056,198
GRCh38 9 98,293,916
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005458.8:c.2543-14T>G
NG_016426.1:g.420282T>G
NC_000009.12:g.98293916A>C
NC_000009.11:g.101056198A>C
 08/16/2022 intron variant likely benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2189214Humangeneralized epilepsy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2189214HumanEpileptic 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 RCV003044283 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene GABBR2 CLINVAR
OMIM 607340 CLINVAR