RGD:13829425 Rat Genome Database

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Variant: RGD:13829425 -  Homo sapiens

RGD ID: 13829425
RS ID: rs770944819
ClinVar ID: CV578874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SZT2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,912,091
GRCh38 1 43,446,420
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029091.1:g.61536T>C
NC_000001.11:g.43446420T>C
NC_000001.10:g.43912091T>C
NM_015284.4:c.8901+4T>C
More... 		02/10/2017 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002315282 CLINVAR
dbSNP (RS) rs770944819 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SZT2 CLINVAR
OMIM 615463 CLINVAR