RGD:8645330 Rat Genome Database

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Variant: RGD:8645330 -  Homo sapiens

RGD ID: 8645330
RS ID: rs62653015
ClinVar ID: CV104738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 68,895,610
GRCh38 1 68,429,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.68429927C>T
NC_000001.10:g.68895610C>T
NP_000320.1:p.Gly484Asp
NM_000329.3:c.1451G>A
More... 		01/31/2024 missense|missense variant pathogenic|likely pathogenic|not provided AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; Congenital retinal blindness; LAMB2-related infantile-onset nephrotic syndrome; Leber's amaurosis; Mesangial sclerosis, diffuse renal, with ocular abnormalities; NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES; Nephrotic syndrome, type 5, with or without ocular abnormalities; NEPHROTIC SYNDROME, TYPE 5, WITHOUT OCULAR ABNORMALITIES; none provided; Recessive RPE65 retinopathy; Retinitis pigmentosa 20; RP 20; RPE65-Related Leber Congenital Amaurosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPE65
Accession:NM_001406857
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406859
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406856
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406860
Location:INTRON

Gene Symbol:RPE65
Accession:NM_000329
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406853
Location:INTRON

Gene Symbol:LOC124904198
Accession:XR_007066164
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:20811047   PMID:25741868   PMID:28130426   PMID:28492532   PMID:29332120   PMID:30025081   PMID:30268864   PMID:30653986   PMID:30924848   PMID:32295525   PMID:33308271   PMID:34492281  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000085175 CLINVAR
  RCV001250703 CLINVAR
  RCV001250809 CLINVAR
  RCV001826773 CLINVAR
  RCV001854497 CLINVAR
  RCV003764788 CLINVAR
dbSNP (RS) rs62653015 CLINVAR
MedGen C0339527 CLINVAR
  C1859844 CLINVAR
  C3280113 CLINVAR
  C3661900 CLINVAR
  CN305526 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 150325 CLINVAR
  180069 CLINVAR
  204000 CLINVAR
  204100 CLINVAR
  613794 CLINVAR
  614199 CLINVAR
SNOMED CT 193413001 CLINVAR