RGD:11594078 Rat Genome Database

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Variant: RGD:11594078 -  Homo sapiens

RGD ID: 11594078
RS ID: rs184287214
ClinVar ID: CV296491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPOX  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 98,312,404
GRCh38 3 98,593,560
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000003.12:g.98593560C>G
NC_000003.11:g.98312404C>G
NG_015994.2:g.5052G>C
LRG_1077:g.5052G>C
More... 		01/13/2018 5 prime utr variant benign|likely benign adolescent 1-9 / 1 000 000 Coproporphyrinogen oxidase deficiency; CPO deficiency; CPOX DEFICIENCY; CPRO deficiency; CPX deficiency; Hereditary coproporphyria porphyria; Porphyria hepatica coproporphyria; Porphyria hepatica II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPOX
Accession:XM_047447473
Location:5UTRS;EXON

Gene Symbol:CPOX
Accession:XM_047447475
Location:5UTRS;EXON

Gene Symbol:CPOX
Accession:NM_000097
Location:5UTRS;EXON

Gene Symbol:CPOX
Accession:XM_005247125
Location:5UTRS;EXON

Gene Symbol:CPOX
Accession:XM_047447474
Location:5UTRS;EXON

Gene Symbol:CPOX
Accession:XR_001740025
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000355170 CLINVAR
dbSNP (RS) rs184287214 CLINVAR
MedGen C0162531 CLINVAR
NCBI Gene CPOX CLINVAR
  LOC129937121 CLINVAR
OMIM 121300 CLINVAR
  612732 CLINVAR
SNOMED CT 7425008 CLINVAR