RGD:8686464 Rat Genome Database

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Variant: RGD:8686464 -  Homo sapiens

RGD ID: 8686464
RS ID: rs738797
ClinVar ID: CV137131
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCB1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 24,143,502
GRCh38 22 23,801,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_520:g.19353C>G
NG_009303.1:g.19353C>G
NC_000022.11:g.23801315C>G
NC_000022.10:g.24143502C>G
More... 		06/24/2018 intron variant benign|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCB1
Accession:NM_001362877
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001007468
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001317946
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_003073
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24728327  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000119894 CLINVAR
  RCV001711392 CLINVAR
dbSNP (RS) rs738797 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMARCB1 CLINVAR
OMIM 601607 CLINVAR