RGD:155952227 Rat Genome Database

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Variant: RGD:155952227 -  Homo sapiens

RGD ID: 155952227
ClinVar ID: CV2169740
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  SZT2-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,913,646
GRCh38 1 43,447,975
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.9392+4A>G
NM_001365999.1:c.9563+4A>G
NG_029091.1:g.63091A>G
NC_000001.11:g.43447975A>G
More... 		03/01/2022 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

Gene Symbol:SZT2-AS1
Accession:NR_046744
Location:INTRON;NON-CODING

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV003014912 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SZT2 CLINVAR
  SZT2-AS1 CLINVAR
OMIM 615463 CLINVAR