RGD:597670912 Rat Genome Database

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Variant: RGD:597670912 -  Homo sapiens

RGD ID: 597670912
ClinVar ID: CV3673262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABBR2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 101,216,287
GRCh38 9 98,454,005
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_005458.8:c.1212C>A
NG_016426.1:g.260193C>A
NC_000009.12:g.98454005G>T
NC_000009.11:g.101216287G>T
More... 		11/15/2024 missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3673262Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 


.


Database
Acc Id
Source(s)
ClinVar RCV004980324 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GABBR2 CLINVAR
OMIM 607340 CLINVAR