RGD:14710759 Rat Genome Database

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Variant: RGD:14710759 -  Homo sapiens

RGD ID: 14710759
RS ID: rs376576632
ClinVar ID: CV661210
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRG2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 161,495,123
GRCh38 5 162,068,117
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001375339.1:c.107+11C>A
NM_001375340.1:c.107+11C>A
NM_001375342.1:c.107+11C>A
NC_000005.10:g.162068117C>A
More... 		03/21/2018 intron variant likely benign CONVULSIONS, FAMILIAL FEBRILE, 8; Febrile seizures, familial, 8; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GABRG2
Accession:NM_001375349
Location:5UTRS;INTRON

Gene Symbol:GABRG2
Accession:NM_001375350
Location:5UTRS;INTRON

Gene Symbol:GABRG2
Accession:NM_001375348
Location:5UTRS;INTRON

Gene Symbol:GABRG2
Accession:NM_001375344
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_198903
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375340
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375347
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375341
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375339
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375345
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_198904
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375343
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_000816
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375342
Location:INTRON

Gene Symbol:GABRG2
Accession:NM_001375346
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000827806 CLINVAR
  RCV002536102 CLINVAR
dbSNP (RS) rs376576632 CLINVAR
MedGen C1843244 CLINVAR
  C3661900 CLINVAR
NCBI Gene GABRG2 CLINVAR
OMIM 137164 CLINVAR
  607681 CLINVAR