RGD:11547958 Rat Genome Database

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Variant: RGD:11547958 -  Homo sapiens

RGD ID: 11547958
RS ID: rs116454519
ClinVar ID: CV249948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,906,111
GRCh38 1 43,440,440
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029091.1:g.55556C>G
NC_000001.11:g.43440440C>G
NC_000001.10:g.43906111C>G
NM_015284.4:c.7040-13C>G
More... 		12/16/2021 intron variant benign|likely benign AllHighlyPenetrant; 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248448 CLINVAR
  RCV001582869 CLINVAR
  RCV003445819 CLINVAR
dbSNP (RS) rs116454519 CLINVAR
MedGen C3661900 CLINVAR
  C3809624 CLINVAR
  CN169374 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR
  615476 CLINVAR