RGD:11591187 Rat Genome Database

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Variant: RGD:11591187 -  Homo sapiens

RGD ID: 11591187
RS ID: rs41301439
ClinVar ID: CV303404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 75,615,562
GRCh38 7 75,986,244
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001367562.3:c.1889+3G>A
NG_008930.1:g.76143G>A
NC_000007.14:g.75986244G>A
NM_001382657.2:c.1889+3G>A
More... 		12/31/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency; DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POR
Accession:NM_001382657
Location:INTRON

Gene Symbol:POR
Accession:NM_001382662
Location:INTRON

Gene Symbol:POR
Accession:NM_001382659
Location:INTRON

Gene Symbol:POR
Accession:NM_001382658
Location:INTRON

Gene Symbol:POR
Accession:NM_001395413
Location:INTRON

Gene Symbol:POR
Accession:NM_001382655
Location:INTRON

Gene Symbol:POR
Accession:NM_001367562
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000952014 CLINVAR
  RCV001697766 CLINVAR
dbSNP (RS) rs41301439 CLINVAR
MedGen C1860042 CLINVAR
  C3661900 CLINVAR
NCBI Gene POR CLINVAR
OMIM 124015 CLINVAR
  613571 CLINVAR