Variant #0000784552 (NC_000001.10:g.68910517C>T, RPE65(NM_000329.2):c.295G>A)

Individual ID 00372648
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68910517C>T
DNA change (hg38) g.68444834C>T
Published as -
ISCN -
DB-ID RPE65_000079 See all 9 reported entries
Variant remarks -
Reference PubMed: Xu 2014
ClinVar ID -
dbSNP ID rs143056561
Origin Germline
Segregation -
Frequency 1/314 case chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373880 DNA SEQ-NG - gene panel - 3 LOVD