Individual #00447585

ID_report SRP-391
Reference PubMed: Weisschuh 2024
Remarks patient, no family history
Gender F
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-26 10:23:59 +01:00 (CET)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000336784 retinitis pigmentosa, simplex - - Unknown - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000449162 DNA SEQ-NG - WGS - 2 Johan den Dunnen



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     
7 Maternal (confirmed) ?/. ACMG VUS g.23191689G>A g.23152070G>A - - KLHL7_000057 ACMG PM2, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen KLHL7 - - - - - NM_001031710.2:c.797G>A - r.(?) p.(Gly266Glu) - - - - - - - - - - - - - -
19 Maternal (confirmed) ?/. ACMG VUS g.54618837del g.54115457del - - PRPF31_000332 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - Johan den Dunnen PRPF31 - - - - - NM_015629.3:c.-349del - r.? p.? - - - - - - - - - - - - - -
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