Full data view for gene RPE65

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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Data_av     

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Owner     
+/. - c.(1430A>G) r.(?) p.(Asp477Gly) Parent #1 - pathogenic (dominant) g.(68896768T>C) g.(68431085T>C) - - RPE65_000017 knock-in mouse model PubMed: Shin 2017, PubMed: Choi 2018 - - animal model yes - - - - DNA SEQ - - retinal disease mouse PubMed: Shin 2017, PubMed: Choi 2018 knock-in mouse model - - - - - - - - 1 LOVD
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (inferred) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Unknown - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - M no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+?/+? 13 c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - likely pathogenic (recessive) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Bowne 2011 - - Germline yes - BstNI+;NlaIV+;PspGI+ - - DNA PCR, SEQ, SEQ-NG-I - - retinal disease - PubMed: Bowne 2011 - F no United Kingdom (Great Britain) Irish - - - - 1 Muhammad Ajmal
+/. - c.1430A>G r.(?) p.(Asp477Gly) Unknown - pathogenic (dominant) g.68896768T>C - - - RPE65_000017 - Doucette 2021, submitted ClinVar-750796 rs1571158279 Germline ? - - - - DNA SEQ-NG Immortalized Lymphoblast - CHM C137 I-1 Doucette 2021, submitted singleton with a diagnosis of choroideremia M ? United States - >72y - Yes - 1 Lance P Doucette
+/. - c.1430A>G r.(?) p.(Asp477Gly) Parent #1 - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Hull 2016 - - Germline yes - - - - DNA SEQ - - retinal disease Fam1-GC16236Pat1.1 PubMed: Hull 2016 2-generation family, 2 affected (F, M) F - United States - - - - - 2 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Hull 2016 - - Germline yes - - - - DNA SEQ - - retinal disease Fam1-GC16236Pat1.2 PubMed: Hull 2016 son M - United States - - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Hull 2016 - - Germline yes - - - - DNA SEQ - - retinal disease Fam2-GC11527Pat2.1 PubMed: Hull 2016 4-generation family, 5 affected (2F, 3M) F - United States - - - - - 5 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Maternal (confirmed) - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Hull 2016 - - Germline yes - - - - DNA SEQ - - retinal disease Fam2-GC11527Pat2.2 PubMed: Hull 2016 son M - United States - - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Paternal (confirmed) - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Hull 2016 - - Germline yes - - - - DNA SEQ - - retinal disease Fam2-GC11527Pat2.3 PubMed: Hull 2016 nephew, asymptomatic father M - United States - - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Parent #1 - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Jauregui 2019 - - Germline yes - - - - DNA SEQ - - retinal disease patient PubMed: Jauregui 2019 - M - United States - - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Parent #1 - pathogenic (dominant) g.68896768T>C g.68431085T>C - - RPE65_000017 - PubMed: Jauregui 2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jauregui 2020 - M - United States - - - - - 1 LOVD
+?/. - c.1430A>G r.(?) p.(Asp477Gly) Unknown - likely pathogenic g.68896768T>C g.68431085T>C RPE65 c.1430A>G, p.Asp477Gly - RPE65_000017 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G012277 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Unknown - pathogenic g.68896768T>C g.68431085T>C RPE65 c.1430A>G - RPE65_000017 heterozygous PubMed: Pappalardo 2021 - - Germline yes - - - - DNA SEQ-NG blood MVL Vision Panel v2 incorporating copy number variation analysis retinal disease I:1 PubMed: Pappalardo 2021 - F - Australia Irish - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Unknown - pathogenic g.68896768T>C g.68431085T>C RPE65 c.1430A>G - RPE65_000017 heterozygous PubMed: Pappalardo 2021 - - Germline yes - - - - DNA SEQ-NG blood MVL Vision Panel v2 incorporating copy number variation analysis retinal disease II:1 PubMed: Pappalardo 2021 - M - Australia Irish - - - - 1 LOVD
+/. - c.1430A>G r.(?) p.(Asp477Gly) Unknown - pathogenic g.68896768T>C g.68431085T>C RPE65 c.1430A>G - RPE65_000017 heterozygous PubMed: Pappalardo 2021 - - Germline yes - - - - DNA SEQ-NG blood MVL Vision Panel v2 incorporating copy number variation analysis retinal disease II:2 PubMed: Pappalardo 2021 - M - Australia Irish - - - - 1 LOVD
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