RGD:12885114 Rat Genome Database

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Variant: RGD:12885114 -  Homo sapiens

RGD ID: 12885114
RS ID: rs369557828
ClinVar ID: CV404282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 24,129,456
GRCh38 22 23,787,269
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_520:g.5307C>T
NG_009303.1:g.5307C>T
NC_000022.11:g.23787269C>T
NC_000022.10:g.24129456C>T
More... 		01/11/2019 intron variant likely benign <1 / 1 000 000 none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCB1
Accession:NM_003073
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001362877
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001007468
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001317946
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000464726 CLINVAR
dbSNP (RS) rs369557828 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMARCB1 CLINVAR
OMIM 601607 CLINVAR