RGD:14712247 Rat Genome Database

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Variant: RGD:14712247 -  Homo sapiens

RGD ID: 14712247
RS ID: rs745371792
ClinVar ID: CV627958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,898,860
GRCh38 1 43,433,189
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.5632C>T
NP_001352928.1:p.Arg1935Trp
NM_001365999.1:c.5803C>T
NG_029091.1:g.48305C>T
More... 		03/30/2020 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 RCV000810226 CLINVAR
  RCV002345832 CLINVAR
  RCV003457818 CLINVAR
dbSNP (RS) rs745371792 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C3809624 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR
  615476 CLINVAR