RGD:38467040 Rat Genome Database

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Variant: RGD:38467040 -  Homo sapiens

RGD ID: 38467040
RS ID: rs952114700
ClinVar ID: CV960430
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,886,659
GRCh38 1 43,420,988
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.1496+5G>T
NM_015284.4:c.1496+5G>T
NG_029091.1:g.36104G>T
NC_000001.11:g.43420988G>T
More... 		11/08/2019 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001241368 CLINVAR
dbSNP (RS) rs952114700 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR