RGD:40889989 Rat Genome Database

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Variant: RGD:40889989 -  Homo sapiens

RGD ID: 40889989
RS ID: rs1692819940
ClinVar ID: CV975029
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUL3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 225,376,070
GRCh38 2 224,511,353
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257197.2:c.685+1G>A
NM_003590.5:c.883+1G>A
NM_001257198.2:c.901+1G>A
NG_032169.1:g.79045G>A
More... 		10/23/2020 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:CUL3
Accession:XM_006712800
Location:INTRON

Gene Symbol:CUL3
Accession:XM_011511996
Location:INTRON

Gene Symbol:CUL3
Accession:NM_001257197
Location:INTRON

Gene Symbol:CUL3
Accession:NM_001257198
Location:INTRON

Gene Symbol:CUL3
Accession:XM_011511995
Location:INTRON

Gene Symbol:CUL3
Accession:XM_047446024
Location:INTRON

Gene Symbol:CUL3
Accession:NM_003590
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001268542 CLINVAR
dbSNP (RS) rs1692819940 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CUL3 CLINVAR
OMIM 603136 CLINVAR