RGD:152120377 Rat Genome Database

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Variant: RGD:152120377 -  Homo sapiens

RGD ID: 152120377
RS ID: rs774590410
ClinVar ID: CV1593802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,888,316
GRCh38 1 43,422,645
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.1922+13A>T
NM_015284.4:c.1922+13A>T
NG_029091.1:g.37761A>T
NC_000001.11:g.43422645A>T
More... 		12/08/2021 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 RCV002098064 CLINVAR
dbSNP (RS) rs774590410 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR