RGD:150479352 Rat Genome Database

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Variant: RGD:150479352 -  Homo sapiens

RGD ID: 150479352
RS ID: rs2302659
ClinVar ID: CV1258240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAD1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 171,700,359
GRCh38 2 170,843,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000817.3:c.639-196C>T
NG_021477.1:g.32160C>T
NC_000002.12:g.170843849C>T
NC_000002.11:g.171700359C>T
06/18/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GAD1
Accession:XM_017003758
Location:3UTRS;INTRON

Gene Symbol:GAD1
Accession:XM_047443874
Location:5UTRS;INTRON

Gene Symbol:GAD1
Accession:NM_013445
Location:INTRON

Gene Symbol:GAD1
Accession:XM_011510922
Location:INTRON

Gene Symbol:GAD1
Accession:XM_047443875
Location:INTRON

Gene Symbol:GAD1
Accession:XM_017003756
Location:INTRON

Gene Symbol:GAD1
Accession:XM_024452783
Location:INTRON

Gene Symbol:GAD1
Accession:NM_000817
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001685658 CLINVAR
dbSNP (RS) rs2302659 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GAD1 CLINVAR
OMIM 605363 CLINVAR