Variant #0000082111 (NC_000001.10:g.68912493_68912494insA, NM_000329.2:c.144_145insT (RPE65))

Individual ID 00052755
Chromosome 1
Allele Maternal (confirmed)
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.68912493_68912494insA
DNA change (hg38) g.68446810_68446811insA
Published as Ins144T
ISCN -
DB-ID RPE65_000046 See all 2 reported entries
Variant remarks -
Reference PubMed: Lorenz 2000, PubMed: Lorenz 2004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site HinfI-;MlyI-;PleI-
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 2021-01-30 11:27:03 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPE65 NM_000329.2 +/+ 3 c.144_145insT r.(?) p.(Leu49Serfs*3)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052703 DNA SSCA;SEQ - - RPE65 2 Muhammad Ajmal


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