RGD:151843762 Rat Genome Database

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Variant: RGD:151843762 -  Homo sapiens

RGD ID: 151843762
RS ID: rs200233054
ClinVar ID: CV1510951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,909,005
GRCh38 1 43,443,334
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.8329-18A>C
NM_001365999.1:c.8500-18A>C
NG_029091.1:g.58450A>C
NC_000001.11:g.43443334A>C
More... 		10/06/2021 intron variant likely benign none provided

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001957073 CLINVAR
dbSNP (RS) rs200233054 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR