RGD:152115744 Rat Genome Database

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Variant: RGD:152115744 -  Homo sapiens

RGD ID: 152115744
RS ID: rs377246498
ClinVar ID: CV1637241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,915,853
GRCh38 1 43,450,182
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.10155+11G>C
NM_015284.4:c.9984+11G>C
NG_029091.1:g.65298G>C
NC_000001.11:g.43450182G>C
More... 		02/04/2021 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 RCV002216106 CLINVAR
dbSNP (RS) rs377246498 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR