RGD:126743277 Rat Genome Database

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Variant: RGD:126743277 -  Homo sapiens

RGD ID: 126743277
RS ID: rs560583293
ClinVar ID: CV1033269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 38,787,951
GRCh38 17 40,631,699
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.715-6T>G
NG_032163.1:g.21153T>G
NC_000017.10:g.38787951A>C
NC_000017.11:g.40631699A>C
 08/16/2022 intron variant likely benign|uncertain significance 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001351128 CLINVAR
dbSNP (RS) rs560583293 CLINVAR
MedGen C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR