RGD:11584247 Rat Genome Database

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Variant: RGD:11584247 -  Homo sapiens

RGD ID: 11584247
RS ID: rs11956247
ClinVar ID: CV303120
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 161,581,871
GRCh38 5 162,154,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000816.3:c.*1497C>T
NM_198903.2:c.*1497C>T
NG_009290.1:g.92224C>T
NC_000005.10:g.162154865C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign infancy 1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GABRG2
Accession:NM_001375341
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_198904
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375349
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375343
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375340
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375348
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375339
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_000816
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375344
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375345
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375350
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375347
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_198903
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375346
Location:3UTRS;EXON

Gene Symbol:GABRG2
Accession:NM_001375342
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362245 CLINVAR
dbSNP (RS) rs11956247 CLINVAR
MedGen C1843244 CLINVAR
NCBI Gene GABRG2 CLINVAR
OMIM 137164 CLINVAR