Variant #0000440859 (NC_000001.10:g.68912396C>A, RPE65(NM_000329.2):c.242G>T)

Individual ID 00208858
Chromosome 1
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.68912396C>A
DNA change (hg38) g.68446713C>A
Published as -
ISCN -
DB-ID RPE65_000177 See all 9 reported entries
Variant remarks -
Reference -
ClinVar ID 000803387
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Bailey Glen
Database submission license No license selected
Created by Bailey Glen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +?/. - c.242G>T r.(242g>u) p.(Arg81Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209907 DNA SEQ-NG-I - WES - 2 Bailey Glen