RGD:152093517 Rat Genome Database

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Variant: RGD:152093517 -  Homo sapiens

RGD ID: 152093517
RS ID: rs542347308
ClinVar ID: CV1648676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,892,867
GRCh38 1 43,427,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.43892867T>A
NM_015284.4:c.3262+17T>A
NM_001365999.1:c.3433+17T>A
NG_029091.1:g.42312T>A
More... 		01/05/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002078030 CLINVAR
dbSNP (RS) rs542347308 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR