RGD:14704690 Rat Genome Database

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Variant: RGD:14704690 -  Homo sapiens

RGD ID: 14704690
RS ID: rs369584002
ClinVar ID: CV653662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYNJ1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 34,015,775
GRCh38 21 32,643,465
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.32643465G>T
NC_000021.8:g.34015775G>T
NM_001160306.2:c.3377-1499C>A
NM_203446.3:c.3431-8C>A
More... 		08/16/2022 intron variant likely benign|uncertain significance Developmental and epileptic encephalopathy, 53; Epileptic encephalopathy, early infantile, 53
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SYNJ1
Accession:NM_203446
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441037
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441035
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441040
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441047
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_001160306
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_017028497
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_017028495
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441041
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441036
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441044
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441042
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441046
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441048
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441049
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_003895
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441045
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_017028499
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441038
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441050
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441039
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441043
Location:INTRON

Gene Symbol:SYNJ1
Accession:NM_001160302
Location:INTRON

Gene Symbol:SYNJ1
Accession:XM_047441034
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000798274 CLINVAR
dbSNP (RS) rs369584002 CLINVAR
MedGen C3809824 CLINVAR
NCBI Gene SYNJ1 CLINVAR
OMIM 604297 CLINVAR
  615530 CLINVAR
  617389 CLINVAR