RGD:156184405 Rat Genome Database

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Variant: RGD:156184405 -  Homo sapiens

RGD ID: 156184405
ClinVar ID: CV1997686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRB2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 160,973,434
GRCh38 5 161,546,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000813.3:c.78-15C>A
NM_001371727.1:c.78-15C>A
NM_021911.3:c.78-15C>A
NG_047050.1:g.6697C>A
More... 		03/15/2022 intron variant likely benign Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1997686Humanintellectual disability  IAGP 8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1997686HumanIntellectual disability  IAGP 8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:28492532
Gene Symbol:GABRB2
Accession:NM_000813
Location:INTRON

Gene Symbol:GABRB2
Accession:NM_021911
Location:INTRON

Gene Symbol:GABRB2
Accession:NM_001371727
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002643126 CLINVAR
MedGen C3714756 CLINVAR
NCBI Gene GABRB2 CLINVAR
OMIM 600232 CLINVAR
SNOMED CT 228156007 CLINVAR