RGD:405048105 Rat Genome Database

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Variant: RGD:405048105 -  Homo sapiens

RGD ID: 405048105
ClinVar ID: CV2877211
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: GABBR2  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 101,065,622
GRCh38 9 98,303,340
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005458.8:c.2313dup
NG_016426.1:g.410858dup
NC_000009.12:g.98303340dup
NC_000009.11:g.101065621_101065622insA
More... 		12/27/2023 nonsense uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2877211Humangeneralized epilepsy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2877211HumanEpileptic encephalopathy  IAGP 8554872ClinVar Annotator: match by term: Epileptic encephalopathyClinVarPMID:28492532

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003592597 CLINVAR
MedGen C0543888 CLINVAR
NCBI Gene GABBR2 CLINVAR
OMIM 607340 CLINVAR