RGD:127253804 Rat Genome Database

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Variant: RGD:127253804 -  Homo sapiens

RGD ID: 127253804
RS ID: rs942834821
ClinVar ID: CV1089059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,892,378
GRCh38 1 43,426,707
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.3044-8C>T
NM_001365999.1:c.3215-8C>T
NG_029091.1:g.41823C>T
NC_000001.11:g.43426707C>T
More... 		08/08/2020 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 RCV001437075 CLINVAR
dbSNP (RS) rs942834821 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR