Individual #00105015

ID_report 10NCE1
Reference PubMed: de Castro-Miró 2016
Remarks -
Gender M
Consanguinity no
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Marta de Castro-Miró
Database submission license No license selected
Created by Marta de Castro-Miró
Date created 2017-06-15 11:16:56 +02:00 (CEST)
Date last edited 2021-03-09 09:18:44 +01:00 (CET)


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000082907 - retinitis pigmentosa - Familial, autosomal dominant - - - - - Marta de Castro-Miró



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105489 DNA SEQ-NG-I Whole blood - - 1 Marta de Castro-Miró



Variants

1 entry on 1 page. Showing entry 1.
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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     
19 Unknown +/. ACMG pathogenic g.48338919_48464817del g.47835662_47961560del - - CRX_000004 - PubMed: de Castro-Miró 2016 - - Germline yes - - - - Marta de Castro-Miró CRX - - - - 2i_4_ NM_000554.4:c.101-582_*121592del - r.0? p.0? - - - - - - - - - - - - - -
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