RGD:38461670 Rat Genome Database

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Variant: RGD:38461670 -  Homo sapiens

RGD ID: 38461670
RS ID: rs752321936
ClinVar ID: CV920452
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 47,433,391
GRCh38 X 47,573,992
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.1982+10C>A
NC_000023.11:g.47573992G>T
NG_008437.1:g.50866C>A
NC_000023.10:g.47433391G>T
More... 		01/30/2020 intron variant conflicting interpretations of pathogenicity|uncertain significance Epilepsy, X-linked, with variable learning disabilities and behavior disorders; 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001197826 CLINVAR
dbSNP (RS) rs752321936 CLINVAR
MedGen C5774177 CLINVAR
NCBI Gene SYN1 CLINVAR
OMIM 300491 CLINVAR
  313440 CLINVAR