Variant #0000787625 (NC_000001.10:g.68910501C>T, RPE65(NM_000329.2):c.311G>A)

Individual ID 00374898
Chromosome 1
Allele Parent #1
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.68910501C>T
DNA change (hg38) g.68444818C>T
Published as -
ISCN -
DB-ID RPE65_000027 See all 2 reported entries
Variant remarks -
Reference PubMed: Huang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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.311G>A r.(?) p.(Gly104Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000376092 DNA SEQ-NG - 284 gene panel - 2 LOVD