RGD:8660753 Rat Genome Database

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Variant: RGD:8660753 -  Homo sapiens

RGD ID: 8660753
RS ID: rs12394306
ClinVar ID: CV135832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 47,436,047
GRCh38 X 47,576,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006950.3:c.838-8T>G
NM_133499.2:c.838-8T>G
NG_008437.1:g.48210T>G
NC_000023.11:g.47576648A>C
More... 		12/31/2019 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Epilepsy, X-linked, with variable learning disabilities and behavior disorders; none provided; X-linked epilepsy-learning disabilities-behavior disorders syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYN1
Accession:NM_133499
Location:INTRON

Gene Symbol:SYN1
Accession:NM_006950
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000118425 CLINVAR
  RCV000713563 CLINVAR
  RCV001085132 CLINVAR
dbSNP (RS) rs12394306 CLINVAR
MedGen C3661900 CLINVAR
  C5774177 CLINVAR
  CN169374 CLINVAR
NCBI Gene SYN1 CLINVAR
OMIM 300491 CLINVAR
  313440 CLINVAR