RGD:126745507 Rat Genome Database

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Variant: RGD:126745507 -  Homo sapiens

RGD ID: 126745507
RS ID: rs1031667752
ClinVar ID: CV1002810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,893,404
GRCh38 1 43,427,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015284.4:c.3631C>T
NM_001365999.1:c.3802C>T
NG_029091.1:g.42849C>T
NC_000001.11:g.43427733C>T
More... 		11/15/2022 missense variant uncertain significance Early infantile epileptic encephalopathy 18; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:EXON

Gene Symbol:SZT2
Accession:NM_001365999
Location:EXON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001315083 CLINVAR
  RCV003458003 CLINVAR
dbSNP (RS) rs1031667752 CLINVAR
MedGen C3661900 CLINVAR
  C3809624 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR
  615476 CLINVAR