RGD:38460176 Rat Genome Database

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Variant: RGD:38460176 -  Homo sapiens

RGD ID: 38460176
RS ID: rs756969292
ClinVar ID: CV959559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,903,577
GRCh38 1 43,437,906
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.6337+4A>G
NC_000001.11:g.43437906A>G
NM_001365999.1:c.6508+4A>G
NM_015284.3:c.6337+4A>G
More... 		09/09/2019 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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001227199 CLINVAR
dbSNP (RS) rs756969292 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR