RGD:28909338 Rat Genome Database

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Variant: RGD:28909338 -  Homo sapiens

RGD ID: 28909338
RS ID: rs782572970
ClinVar ID: CV898378
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860075  POR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 75,612,954
GRCh38 7 75,983,636
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008930.1:g.73535G>C
NC_000007.14:g.75983636G>C
NC_000007.13:g.75612954G>C
NM_000941.2:c.947G>C
More... 		01/12/2018 missense variant uncertain significance Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency; DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POR
Accession:NM_001382659
Location:INTRON

Gene Symbol:POR
Accession:NM_001395413
Location:INTRON

Gene Symbol:POR
Accession:NM_001382658
Location:INTRON

Gene Symbol:POR
Accession:NM_001367562
Location:INTRON

Gene Symbol:POR
Accession:NM_001382662
Location:INTRON

Gene Symbol:POR
Accession:NM_001382657
Location:INTRON

Gene Symbol:POR
Accession:NM_001382655
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160552 CLINVAR
dbSNP (RS) rs782572970 CLINVAR
MedGen C1860042 CLINVAR
NCBI Gene LOC126860075 CLINVAR
  POR CLINVAR
OMIM 124015 CLINVAR
  613571 CLINVAR