RGD:11654829 Rat Genome Database

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Variant: RGD:11654829 -  Homo sapiens

RGD ID: 11654829
RS ID: rs886058085
ClinVar ID: CV292965
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CP  HPS3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 148,891,158
GRCh38 3 149,173,371
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_009847.1:g.48788T>C
NG_011800.2:g.53675A>G
NC_000003.12:g.149173371T>C
NC_000003.11:g.148891158T>C
More... 		06/14/2016 3 prime utr variant uncertain significance adult 1-9 / 1 000 000 Aceruloplasminemia; Ceruloplasmin deficiency; Deficiency of ceruloplasmin; Familial apoceruloplasmin deficiency; Hereditary ceruloplasmin deficiency; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HPS3
Accession:NM_032383
Location:3UTRS;EXON

Gene Symbol:HPS3
Accession:NM_001308258
Location:3UTRS;EXON

Gene Symbol:CP
Accession:NM_000096
Location:3UTRS;EXON

Gene Symbol:CP
Accession:XM_017005735
Location:3UTRS;EXON

Gene Symbol:CP
Accession:XM_006713500
Location:3UTRS;EXON

Gene Symbol:CP
Accession:XM_011512435
Location:INTRON

Gene Symbol:CP
Accession:XM_017005734
Location:INTRON

Gene Symbol:HPS3
Accession:XM_005247834
Location:INTRON

Gene Symbol:CP
Accession:XM_006713499
Location:INTRON

Gene Symbol:CP
Accession:XM_006713501
Location:INTRON

Gene Symbol:HPS3
Accession:XM_047449064
Location:INTRON

Gene Symbol:HPS3
Accession:XR_001740328
Location:INTRON;NON-CODING

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000321137 CLINVAR
  RCV000378160 CLINVAR
dbSNP (RS) rs886058085 CLINVAR
MedGen C0878682 CLINVAR
  C3888001 CLINVAR
NCBI Gene CP CLINVAR
  HPS3 CLINVAR
OMIM 117700 CLINVAR
  604290 CLINVAR
  606118 CLINVAR
  614072 CLINVAR
SNOMED CT 124224004 CLINVAR