RGD:13465821 Rat Genome Database

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Variant: RGD:13465821 -  Homo sapiens

RGD ID: 13465821
RS ID: rs138882423
ClinVar ID: CV469567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYNJ1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 34,056,437
GRCh38 21 32,684,127
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.32684127C>A
NC_000021.8:g.34056437C>A
NM_001160306.2:c.1119-8G>T
NG_030017.2:g.48913G>T
More... 		12/02/2020 intron variant benign|likely benign AllHighlyPenetrant; Developmental and epileptic encephalopathy, 53; Epileptic encephalopathy, early infantile, 53; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYNJ1
Accession:XM_017028499
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441043
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441036
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441050
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441045
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_001160306
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441044
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441039
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_203446
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441034
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_003895
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441037
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441049
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441047
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_017028495
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441040
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_001160302
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_017028497
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441041
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441038
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441035
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441046
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441042
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441048
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000548562 CLINVAR
  RCV001288849 CLINVAR
  RCV001595020 CLINVAR
  RCV003915655 CLINVAR
dbSNP (RS) rs138882423 CLINVAR
MedGen C3661900 CLINVAR
  C3809824 CLINVAR
  CN169374 CLINVAR
NCBI Gene SYNJ1 CLINVAR
OMIM 604297 CLINVAR
  615530 CLINVAR
  617389 CLINVAR