RGD:28871091 Rat Genome Database

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Variant: RGD:28871091 -  Homo sapiens

RGD ID: 28871091
RS ID: rs200587974
ClinVar ID: CV870517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP290  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 88,523,652
GRCh38 12 88,129,875
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008417.2:g.17342C>T
NM_025114.4:c.671C>T
NC_000012.12:g.88129875G>A
NC_000012.11:g.88523652G>A
More... 		10/20/2022 missense variant likely benign|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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CEP290
Accession:XM_011538763
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538760
Location:EXON

Gene Symbol:CEP290
Accession:NM_025114
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538764
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429559
Location:EXON

Gene Symbol:CEP290
Accession:XM_017019980
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429563
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538757
Location:EXON

Gene Symbol:CEP290
Accession:XM_017019981
Location:EXON

Gene Symbol:CEP290
Accession:XM_017019982
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538759
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429561
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429560
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538762
Location:EXON

Gene Symbol:CEP290
Accession:XM_017019983
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538761
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429562
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538765
Location:EXON

Gene Symbol:CEP290
Accession:XM_047429558
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538758
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538756
Location:EXON

Gene Symbol:CEP290
Accession:XM_011538766
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001109862 CLINVAR
  RCV001109863 CLINVAR
  RCV001109864 CLINVAR
  RCV001109865 CLINVAR
  RCV001113893 CLINVAR
  RCV001244757 CLINVAR
  RCV001279936 CLINVAR
  RCV002497520 CLINVAR
  RCV003227912 CLINVAR
  RCV003906207 CLINVAR
dbSNP (RS) rs200587974 CLINVAR
MedGen C0339527 CLINVAR
  C0431399 CLINVAR
  C1857779 CLINVAR
  C1857780 CLINVAR
  C1857821 CLINVAR
  C1970161 CLINVAR
  C2673874 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