RGD:13828914 Rat Genome Database

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Variant: RGD:13828914 -  Homo sapiens

RGD ID: 13828914
RS ID: rs779987144
ClinVar ID: CV578829
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,891,142
GRCh38 1 43,425,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001365999.1:c.2646-3T>C
NM_015284.4:c.2646-3T>C
NG_029091.1:g.40587T>C
NC_000001.11:g.43425471T>C
More...
10/02/2018 intron 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:INTRON

Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000807441 CLINVAR
  RCV002316151 CLINVAR
  RCV003446391 CLINVAR
dbSNP (RS) rs779987144 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C3809624 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR
  615476 CLINVAR