RGD:11587897 Rat Genome Database

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Variant: RGD:11587897 -  Homo sapiens

RGD ID: 11587897
RS ID: rs10498161
ClinVar ID: CV287926
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CUL3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 225,336,889
GRCh38 2 224,472,172
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032169.1:g.118226A>G
NC_000002.12:g.224472172T>C
NC_000002.11:g.225336889T>C
NM_001257198.2:c.*2073A>G
More... 		06/14/2016 3 prime utr variant benign none provided; PHA I, AUTOSOMAL DOMINANT; Pseudohypoaldosteronism, Type I, Autosomal Dominant; Pseudohypoaldosteronism, Type I, Dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CUL3
Accession:NM_001257198
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_011511996
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_006712800
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_047446024
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:XM_011511995
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:NM_001257197
Location:3UTRS;EXON

Gene Symbol:CUL3
Accession:NM_003590
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000298493 CLINVAR
  RCV001143761 CLINVAR
  RCV004708515 CLINVAR
dbSNP (RS) rs10498161 CLINVAR
MedGen C1449842 CLINVAR
  C3469606 CLINVAR
  C3661900 CLINVAR
NCBI Gene CUL3 CLINVAR
OMIM 177735 CLINVAR
  603136 CLINVAR
  614496 CLINVAR