RGD:127295956 Rat Genome Database

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Variant: RGD:127295956 -  Homo sapiens

RGD ID: 127295956
RS ID: rs774139392
ClinVar ID: CV1122967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP290  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 88,486,615
GRCh38 12 88,092,838
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_694t1:c.3310-6C>T
NM_025114.4:c.3310-6C>T
LRG_694:g.54379C>T
NG_008417.2:g.54379C>T
More... 		08/29/2019 intron variant likely benign Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; juvenile nephronophthisis; Meckel-Gruber syndrome; Nephronophthisis
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:NM_025114
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019982
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429562
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538765
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538764
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538760
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429559
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429563
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538756
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538763
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019980
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429561
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538762
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538758
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538761
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429558
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538766
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538757
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019981
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538759
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019983
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429560
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001477205 CLINVAR
dbSNP (RS) rs774139392 CLINVAR
MedGen C0431399 CLINVAR
NCBI Gene CEP290 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  610142 CLINVAR
SNOMED CT 253175003 CLINVAR