RGD:38470017 Rat Genome Database

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Variant: RGD:38470017 -  Homo sapiens

RGD ID: 38470017
RS ID: rs774981111
ClinVar ID: CV939815
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,905,026
GRCh38 1 43,439,355
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.6622-3C>T
NM_001365999.1:c.6793-3C>T
NG_029091.1:g.54471C>T
NC_000001.11:g.43439355C>T
More... 		08/07/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001206859 CLINVAR
dbSNP (RS) rs774981111 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR