Individual #00052941

ID_report -
Reference PubMed: Jacobson 2007
Remarks -
Gender ?
Consanguinity ?
Country United States
Population American
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases LCA
Owner name 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 N/A


Phenotypes

Leber congenital amaurosis (LCA) (LCA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000039518 Leber congenital amaurosis - - Unknown - - - - - Muhammad Ajmal



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000052889 DNA ? - - RPE65 2 Muhammad Ajmal



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown +?/+? - likely pathogenic (recessive) g.68903896A>G g.68438213A>G - - RPE65_000001 - PubMed: Jacobson 2007 - - Germline - - NspI+ - - Muhammad Ajmal RPE65 - - - - 10 NM_000329.2:c.1102T>C - r.(?) p.(Tyr368His) - - - - - - - - - - - - - -
1 Unknown +/+ - pathogenic (recessive) g.68904734del g.68439051del - - RPE65_000057 - PubMed: Jacobson 2007 - - Germline - - - - - Muhammad Ajmal RPE65 - - - - 9 NM_000329.2:c.893del - r.(?) p.(Lys298Serfs*27) - - - - - - - - - - - - - -
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