RGD:14703609 Rat Genome Database

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Variant: RGD:14703609 -  Homo sapiens

RGD ID: 14703609
RS ID: rs1597746020
ClinVar ID: CV653269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 38,792,182
GRCh38 17 40,635,930
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.541+1G>A
NG_032163.1:g.16922G>A
NM_003079.4:c.541+1G>A
NC_000017.11:g.40635930C>T
More... 		03/20/2019 splice donor variant likely pathogenic|uncertain significance Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Meningioma, familial, susceptibility to; Neoplastic Syndromes, Hereditary; Tumor predisposition
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 RCV000794508 CLINVAR
  RCV001024062 CLINVAR
dbSNP (RS) rs1597746020 CLINVAR
MedGen C0027672 CLINVAR
  C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR
SNOMED CT 699346009 CLINVAR