RGD:11351189 Rat Genome Database

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Variant: RGD:11351189 -  Homo sapiens

RGD ID: 11351189
RS ID: rs878853360
ClinVar ID: CV238061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP290  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 88,532,921
GRCh38 12 88,139,144
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.88139144C>A
NC_000012.11:g.88532921C>A
NG_008417.2:g.8073G>T
NM_025114.3:c.297+1G>T
More... 		04/10/2019 splice donor variant pathogenic|uncertain significance Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Congenital retinal blindness; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; juvenile nephronophthisis; Leber's amaurosis; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 4; Nephronophthisis; 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:CEP290
Accession:XM_017019980
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538764
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019981
Location:INTRON

Gene Symbol:CEP290
Accession:NM_025114
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538762
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538766
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429562
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538758
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429560
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538757
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538760
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538765
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429558
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429559
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538763
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429561
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538761
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429563
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019983
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019982
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538756
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538759
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:16909394   PMID:17345604   PMID:20690115   PMID:22699515   PMID:25097241   PMID:25741868   PMID:27375279   PMID:28492532   PMID:28973549  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000225517 CLINVAR
  RCV001223284 CLINVAR
  RCV001782716 CLINVAR
  RCV001833239 CLINVAR
  RCV003155133 CLINVAR
  RCV003469116 CLINVAR
dbSNP (RS) rs878853360 CLINVAR
MedGen C0339527 CLINVAR
  C0431399 CLINVAR
  C0854723 CLINVAR
  C1970161 CLINVAR
  C2673874 CLINVAR
  C3661900 CLINVAR
NCBI Gene CEP290 CLINVAR
OMIM 204000 CLINVAR
  213300 CLINVAR
  249000 CLINVAR
  610142 CLINVAR
  611134 CLINVAR
  615991 CLINVAR
SNOMED CT 193413001 CLINVAR
  253175003 CLINVAR
  314407005 CLINVAR