Variant #0000714512 (NC_000001.10:g.68912489A>G, RPE65(NM_000329.2):c.149T>C)

Individual ID 00328860
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68912489A>G
DNA change (hg38) g.68446806A>G
Published as F50S
ISCN -
DB-ID RPE65_000269
Variant remarks -
Reference PubMed: Zhong 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +/. - c.149T>C r.(?) p.(Phe50Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000330076 DNA SEQ - - RPE65 1 LOVD