RGD:25317108 Rat Genome Database

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Variant: RGD:25317108 -  Homo sapiens

RGD ID: 25317108
RS ID: rs1597746280
ClinVar ID: CV815682
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCE1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 38,792,643
GRCh38 17 40,636,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032163.1:g.16461G>A
NC_000017.11:g.40636391C>T
NC_000017.10:g.38792643C>T
NM_003079.5:c.369+4G>A
More... 		12/21/2018 intron variant 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001020889 CLINVAR
  RCV003769534 CLINVAR
dbSNP (RS) rs1597746280 CLINVAR
MedGen C0027672 CLINVAR
  C3551915 CLINVAR
NCBI Gene SMARCE1 CLINVAR
OMIM 603111 CLINVAR
  607174 CLINVAR
SNOMED CT 699346009 CLINVAR