RGD:150493512 Rat Genome Database

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Variant: RGD:150493512 -  Homo sapiens

RGD ID: 150493512
RS ID: rs150257688
ClinVar ID: CV1267161
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCA2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 2,054,565
GRCh38 9 2,054,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_882t1:c.1047-32C>T
NM_001289396.1:c.1047-32C>T
NM_001289397.2:c.1047-32C>T
NM_003070.5:c.1047-32C>T
More... 		05/30/2020 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 RCV001688189 CLINVAR
dbSNP (RS) rs150257688 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCA2 CLINVAR
OMIM 600014 CLINVAR