RGD:150484065 Rat Genome Database

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Variant: RGD:150484065 -  Homo sapiens

RGD ID: 150484065
RS ID: rs372456230
ClinVar ID: CV1247061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 2,123,959
GRCh38 9 2,123,959
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_882t1:c.3981+22C>T
NM_001289397.2:c.3807+22C>T
NM_001289396.1:c.3981+22C>T
NM_003070.5:c.3981+22C>T
More... 		08/20/2020 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCA2
Accession:NM_003070
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_139045
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289397
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289396
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289398
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289399
Location:INTRON

Gene Symbol:SMARCA2
Accession:NM_001289400
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001673557 CLINVAR
dbSNP (RS) rs372456230 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCA2 CLINVAR
OMIM 600014 CLINVAR