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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 4 c.272G>C r.(?) p.(Arg91Pro) Unknown - likely pathogenic (recessive) g.68910540C>G g.68444857C>G - - RPE65_000152 - PubMed: Simonelli 2007 - - Germline yes - BsrFI+;HpaII+;LpnPI+;MspI+;BsiWI- 0 - DNA SEQ, PCR, DHPLC - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - 0 - - 1 Muhammad Ajmal
?/. - c.272G>C r.(?) p.(Arg91Pro) Unknown ACMG VUS g.68910540C>G g.68444857C>G RPE65 c.272G>C; p.Arg91Pro - RPE65_000152 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 124 PubMed: Sallum 2020 - ? - Brazil - - 0 - - 1 LOVD
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