RGD:14732441 Rat Genome Database

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Variant: RGD:14732441 -  Homo sapiens

RGD ID: 14732441
RS ID: rs11704119
ClinVar ID: CV669601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895556  SMARCB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,167,166
GRCh38 22 23,824,979
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001007468.3:c.769-246G>A
NM_003073.5:c.796-246G>A
NM_001317946.2:c.823-246G>A
NM_001362877.2:c.850-246G>A
More... 		06/20/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCB1
Accession:NM_001317946
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001007468
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_003073
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001362877
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000836588 CLINVAR
dbSNP (RS) rs11704119 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCB1 CLINVAR
OMIM 601607 CLINVAR