Variant #0000082457 (NC_000001.10:g.68914297T>C, RPE65(NM_000329.2):c.94+10A>G)

Individual ID 00052641
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.68914297T>C
DNA change (hg38) g.68448614T>C
Published as -
ISCN -
DB-ID RPE65_000146
Variant remarks intronic variant, uncertain pathogenicity; unknown variant 2ndchromosome
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
Reference PubMed: Henderson 2007
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 Muhammad Ajmal
Database submission license No license selected
Created by Muhammad Ajmal
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 ?/? 2i c.94+10A>G r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052589 DNA arraySEQ;PCR;SEQ - - RPE65 1 Muhammad Ajmal