RGD:152075392 Rat Genome Database

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Variant: RGD:152075392 -  Homo sapiens

RGD ID: 152075392
RS ID: rs199721995
ClinVar ID: CV1629380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,909,008
GRCh38 1 43,443,337
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.8329-15G>A
NM_001365999.1:c.8500-15G>A
NG_029091.1:g.58453G>A
NC_000001.10:g.43909008G>A
More... 		11/15/2021 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 RCV002130145 CLINVAR
dbSNP (RS) rs199721995 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR