Variant #0000736370 (NC_000001.10:g.?, RPE65(NM_000329.2):c.?)

Individual ID 00335606
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) -
Published as gi3077820:IVS12+20A>C
ISCN -
DB-ID NPHS2_000000 See all 270 reported entries
Variant remarks -
Reference PubMed: Morimura 1998; PubMed: Booij 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Julia Lopez
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 -/. - c.? r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336834 DNA DHPLC;PCR;SEQ - - RPE65 1 Julia Lopez