RGD:11589164 Rat Genome Database

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Variant: RGD:11589164 -  Homo sapiens

RGD ID: 11589164
RS ID: rs3118416
ClinVar ID: CV281145
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 68,894,544
GRCh38 1 68,428,861
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.68428861G>C
NC_000001.10:g.68894544G>C
NG_008472.2:g.26099C>G
NM_000329.2:c.*915C>G
More... 		01/13/2018 3 prime utr variant benign|likely benign AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; RPE65-Related Leber Congenital Amaurosis; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPE65
Accession:NM_001406857
Location:3UTRS;EXON

Gene Symbol:RPE65
Accession:NM_001406853
Location:3UTRS;EXON

Gene Symbol:RPE65
Accession:NM_000329
Location:3UTRS;EXON

Gene Symbol:RPE65
Accession:NM_001406856
Location:3UTRS;EXON

Gene Symbol:RPE65
Accession:NM_001406859
Location:INTRON

Gene Symbol:RPE65
Accession:NM_001406860
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000308734 CLINVAR
  RCV000396769 CLINVAR
dbSNP (RS) rs3118416 CLINVAR
MedGen C0035334 CLINVAR
  C1859844 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 180069 CLINVAR
  204100 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR