Variant #0000082438 (NC_000001.10:g.68904743dup, NM_000329.2:c.886dup (RPE65))

Individual ID 00052479
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68904743dup
DNA change (hg38) g.68439060dup
Published as -
ISCN -
DB-ID RPE65_000140 See all 6 reported entries
Variant remarks -
Reference PubMed: Coppieters 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/91 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal
Date created 2015-10-26 17:05:36 +01:00 (CET)
Date last edited 2020-06-04 16:21:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +/+ 9 c.886dup r.(?) p.(Arg296Lysfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052427 DNA arraySEQ;PCR;SEQ - - RPE65 2 Muhammad Ajmal


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