RGD:38456959 Rat Genome Database

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Variant: RGD:38456959 -  Homo sapiens

RGD ID: 38456959
RS ID: rs1461116323
ClinVar ID: CV940636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,880,888
GRCh38 1 43,415,217
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.630+4T>C
NC_000001.11:g.43415217T>C
NM_015284.3:c.630+4T>C
NG_029091.1:g.30333T>C
More... 		05/04/2019 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 RCV001218889 CLINVAR
dbSNP (RS) rs1461116323 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR