RGD:13462524 Rat Genome Database

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Variant: RGD:13462524 -  Homo sapiens

RGD ID: 13462524
RS ID: rs149950330
ClinVar ID: CV439076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,897,114
GRCh38 1 43,431,443
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.46559A>G
NC_000001.11:g.43431443A>G
NC_000001.10:g.43897114A>G
NM_015284.4:c.4854-17A>G
More... 		12/17/2021 intron variant benign|likely benign Early infantile epileptic encephalopathy 18; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000514305 CLINVAR
  RCV003446114 CLINVAR
dbSNP (RS) rs149950330 CLINVAR
MedGen C3661900 CLINVAR
  C3809624 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR
  615476 CLINVAR