Variant #0000792182 (NC_000001.10:g.68910517C>T, RPE65(NM_000329.2):c.295G>A)

Individual ID 00377904
Chromosome 1
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.68910517C>T
DNA change (hg38) -
Published as 295G>A
ISCN -
DB-ID RPE65_000079 See all 9 reported entries
Variant remarks -
Reference PubMed: li 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/87 cases; 0/96 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 -/. 4 c.295G>A r.(?) p.(Val99Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000379108 DNA PCR; SEQ blood - GUCY2D 3 LOVD