RGD:596930150 Rat Genome Database

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Variant: RGD:596930150 -  Homo sapiens

RGD ID: 596930150
ClinVar ID: CV3531390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRB2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 160,886,852
GRCh38 5 161,459,846
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_000813.3:c.238-2A>G
NM_001371727.1:c.238-2A>G
NM_021911.3:c.238-2A>G
NG_047050.1:g.93279A>G
More... 		04/18/2024 splice acceptor variant uncertain significance none provided

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Database
Acc Id
Source(s)
ClinVar RCV004779964 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GABRB2 CLINVAR
OMIM 600232 CLINVAR