Variant #0000821382 (NC_000001.10:g.68915573C>T, RPE65(NM_000329.2):c.11+5G>A)

Individual ID 00390391
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.68915573C>T
DNA change (hg38) g.68449890C>T
Published as RPE65 c.11+5G>A,
ISCN -
DB-ID RPE65_000058 See all 85 reported entries
Variant remarks heterozygous
Reference PubMed: Turro 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. - c.11+5G>A r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000391632 DNA SEQ-NG-I blood whole genome sequencing RPE65 2 LOVD