RGD:127259366 Rat Genome Database

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Variant: RGD:127259366 -  Homo sapiens

RGD ID: 127259366
RS ID: rs2100831551
ClinVar ID: CV1089307
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 68,912,542
GRCh38 1 68,446,859
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000329.3:c.96C>G
NG_008472.2:g.8101C>G
NC_000001.11:g.68446859G>C
NC_000001.10:g.68912542G>C
More... 		09/17/2019 synonymous variant likely benign AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; 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:5UTRS;EXON

Gene Symbol:RPE65
Accession:NM_001406856
Location:5UTRS;INTRON

Gene Symbol:RPE65
Accession:NM_001406853
Location:EXON

Gene Symbol:RPE65
Accession:NM_001406859
Location:EXON

Gene Symbol:RPE65
Accession:NM_001406860
Location:EXON

Gene Symbol:RPE65
Accession:NM_000329
Location:EXON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001427586 CLINVAR
dbSNP (RS) rs2100831551 CLINVAR
MedGen C1859844 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 180069 CLINVAR
  204100 CLINVAR
  613794 CLINVAR