RGD:40906191 Rat Genome Database

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Variant: RGD:40906191 -  Homo sapiens

RGD ID: 40906191
RS ID: rs769525877
ClinVar ID: CV979311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP290  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 88,477,618
GRCh38 12 88,083,841
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.88083841T>A
NM_025114.4:c.4812+6A>T
NC_000012.11:g.88477618T>A
NG_008417.2:g.63376A>T
More... 		04/26/2022 intron variant uncertain significance Amaurosis congenita of Leber, type 10; Bardet-Biedl syndrome 14; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Congenital retinal blindness; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert syndrome 5; Joubert-Boltshauser syndrome; juvenile nephronophthisis; Leber's amaurosis; Meckel syndrome, type 4; Meckel-Gruber syndrome; MECKEL-GRUBER SYNDROME, TYPE 4; Nephronophthisis; Senior-Loken syndrome 6
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_011538756
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538758
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019980
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429561
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019981
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429559
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538765
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019982
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429563
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538759
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538766
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429560
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538760
Location:INTRON

Gene Symbol:CEP290
Accession:XM_017019983
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429558
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538763
Location:INTRON

Gene Symbol:CEP290
Accession:NM_025114
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538762
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538761
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538764
Location:INTRON

Gene Symbol:CEP290
Accession:XM_011538757
Location:INTRON

Gene Symbol:CEP290
Accession:XM_047429562
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001279532 CLINVAR
  RCV002499482 CLINVAR
  RCV002542928 CLINVAR
dbSNP (RS) rs769525877 CLINVAR
MedGen C0339527 CLINVAR
  C0431399 CLINVAR
  C1857821 CLINVAR
NCBI Gene CEP290 CLINVAR
OMIM 204000 CLINVAR
  213300 CLINVAR
  249000 CLINVAR
  610142 CLINVAR
  610188 CLINVAR
  610189 CLINVAR
  611134 CLINVAR
  611755 CLINVAR
  615991 CLINVAR
SNOMED CT 193413001 CLINVAR
  253175003 CLINVAR