RGD:11595240 Rat Genome Database

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Variant: RGD:11595240 -  Homo sapiens

RGD ID: 11595240
RS ID: rs17847017
ClinVar ID: CV292985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 148,917,664
GRCh38 3 149,199,877
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
NG_011800.2:g.27169T>C
NC_000003.12:g.149199877A>G
NC_000003.11:g.148917664A>G
NM_000096.4:c.1349-13T>C
More... 		12/02/2020 intron variant benign|likely benign adult 1-9 / 1 000 000 Aceruloplasminemia; Ceruloplasmin deficiency; Deficiency of ceruloplasmin; Familial apoceruloplasmin deficiency; Hereditary ceruloplasmin deficiency; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CP
Accession:NM_000096
Location:INTRON

Gene Symbol:CP
Accession:XM_006713499
Location:INTRON

Gene Symbol:CP
Accession:XM_006713500
Location:INTRON

Gene Symbol:CP
Accession:XM_006713501
Location:INTRON

Gene Symbol:CP
Accession:XM_011512435
Location:INTRON

Gene Symbol:CP
Accession:XM_017005735
Location:INTRON

Gene Symbol:CP
Accession:XM_017005734
Location:INTRON

Gene Symbol:CP
Accession:NR_046371
Location:INTRON;NON-CODING

Gene Symbol:CP
Accession:XR_427361
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000368502 CLINVAR
  RCV001618610 CLINVAR
dbSNP (RS) rs17847017 CLINVAR
MedGen C0878682 CLINVAR
  C3661900 CLINVAR
NCBI Gene CP CLINVAR
OMIM 117700 CLINVAR
  604290 CLINVAR
SNOMED CT 124224004 CLINVAR