RGD:12844086 Rat Genome Database

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Variant: RGD:12844086 -  Homo sapiens

RGD ID: 12844086
RS ID: rs369154492
ClinVar ID: CV373261
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP290  LOC124902977  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 88,454,775
GRCh38 12 88,060,998
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.88060998C>T
NC_000012.11:g.88454775C>T
NG_008417.2:g.86219G>A
NM_025114.4:c.6358-4G>A
More... 		12/31/2019 intron variant likely benign AllHighlyPenetrant; Amaurosis congenita of Leber, type 10; Bardet-Biedl syndrome 14; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert syndrome 5; Joubert-Boltshauser syndrome; juvenile nephronophthisis; Meckel syndrome, type 4; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 4; Nephronophthisis; Senior-Loken syndrome 6
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CEP290
Accession:XM_011538759
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538758
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429563
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429559
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019982
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538760
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538761
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019983
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429558
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538766
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538764
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538762
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538765
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019981
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538756
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019980
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429560
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429562
Location:INTRON

Gene Symbol:CEP290
Accession:NM_025114
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538763
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429561
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538757
Location:INTRON

Gene Symbol:LOC124902977
Accession:XR_007063393
Location:INTRON;NON-CODING

Gene Symbol:LOC124902977
Accession:XR_007063392
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000437373 CLINVAR
  RCV000863357 CLINVAR
  RCV002502512 CLINVAR
  RCV003970148 CLINVAR
dbSNP (RS) rs369154492 CLINVAR
MedGen C0431399 CLINVAR
  C1857821 CLINVAR
  CN169374 CLINVAR
NCBI Gene CEP290 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  610142 CLINVAR
  610188 CLINVAR
  610189 CLINVAR
  611134 CLINVAR
  611755 CLINVAR
  615991 CLINVAR
SNOMED CT 253175003 CLINVAR