RGD:13467795 Rat Genome Database

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Variant: RGD:13467795 -  Homo sapiens

RGD ID: 13467795
RS ID: rs1556860663
ClinVar ID: CV470848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 47,464,780
GRCh38 X 47,605,381
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_133499.2:c.528-2A>T
NG_008437.1:g.19477A>T
NM_006950.3:c.528-2A>T
NC_000023.11:g.47605381T>A
More... 		08/16/2022 splice acceptor variant pathogenic|likely pathogenic 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:14985377   PMID:16199547   PMID:21441247   PMID:25741868   PMID:28492532   PMID:36568968  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555972 CLINVAR
  RCV001770437 CLINVAR
dbSNP (RS) rs1556860663 CLINVAR
MedGen C3661900 CLINVAR
  C5774177 CLINVAR
NCBI Gene SYN1 CLINVAR
OMIM 300491 CLINVAR
  313440 CLINVAR