RGD:28884718 Rat Genome Database

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Variant: RGD:28884718 -  Homo sapiens

RGD ID: 28884718
RS ID: rs1692626427
ClinVar ID: CV887283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUL3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 225,371,725
GRCh38 2 224,507,008
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.225371725A>G
NM_003590.5:c.884-5T>C
NM_001257198.2:c.902-5T>C
NG_032169.1:g.83390T>C
More... 		01/13/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUL3
Accession:NM_003590
Location:INTRON

Gene Symbol:CUL3
Accession:NM_001257198
Location:INTRON

Gene Symbol:CUL3
Accession:XM_047446024
Location:INTRON

Gene Symbol:CUL3
Accession:XM_006712800
Location:INTRON

Gene Symbol:CUL3
Accession:NM_001257197
Location:INTRON

Gene Symbol:CUL3
Accession:XM_011511995
Location:INTRON

Gene Symbol:CUL3
Accession:XM_011511996
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001137314 CLINVAR
dbSNP (RS) rs1692626427 CLINVAR
MedGen C3469606 CLINVAR
NCBI Gene CUL3 CLINVAR
OMIM 603136 CLINVAR
  614496 CLINVAR