RGD:26901055 Rat Genome Database

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Variant: RGD:26901055 -  Homo sapiens

RGD ID: 26901055
RS ID: rs2037146593
ClinVar ID: CV852740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 38,792,646
GRCh38 17 40,636,394
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003079.5:c.369+1G>T
NG_032163.1:g.16458G>T
NC_000017.11:g.40636394C>A
NC_000017.10:g.38792646C>A
More...
04/23/2019 splice donor variant likely pathogenic Meningioma, familial, susceptibility to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SMARCE1
Accession:NM_003079
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:23377182   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001068256 CLINVAR
dbSNP (RS) rs2037146593 CLINVAR
MedGen C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR