Individual #00419666

ID_report 20094
Reference PubMed: Marinakis 2021
Remarks -
Gender M
Consanguinity -
Country Greece
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Jan Traeger-Synodinos
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-20 16:24:48 +02:00 (CEST)
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     
0000310947 renal abnormality - renal failure, nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), splenomegaly, cardiomyopathy, beta-thalassemia Unknown 15y - - - - - - Jan Traeger-Synodinos



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000420970 DNA SEQ;SEQ-NG - clinical exome sequencing - 5 Jan Traeger-Synodinos



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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     
11 Maternal (confirmed) +/. ACMG pathogenic (recessive) g.5248050C>T g.5226820C>T - - HBB_001147 ACMG PS3, PM2, PP5 PubMed: Marinakis 2021 - rs35004220 Germline - - - - - Jan Traeger-Synodinos HBB - - - - - NM_000518.4:c.93-21G>A - r.spl p.? - - - - - - - - - - - - - -
11 Paternal (confirmed) +/. ACMG pathogenic (recessive) g.5248402G>A g.5227172G>A c.-151C>T - HBB_001031 ACMG PS3, PM2, PP5 PubMed: Marinakis 2021 - rs63751208 Germline - - - - - Jan Traeger-Synodinos HBB - - - - - NM_000518.4:- - r.? p.? - - - - - - - - - - - - - -
14 Unknown ?/. ACMG VUS g.23892820G>T g.23423611G>T - - MYH7_001356 ACMG PM2, PP2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - - - Jan Traeger-Synodinos MYH7 - - - - - NM_000257.2:c.3035C>A - r.(?) p.(Ala1012Asp) - - - - - - - - - - - - - -
16 Unknown +?/. ACMG likely pathogenic g.2149709G>A g.2099708G>A - - PKD1_002907 ACMG PM1, PM2, PP3, PP4 PubMed: Marinakis 2021 - rs1203304646 Germline/De novo (untested) - - - - - Jan Traeger-Synodinos PKD1 - - - - - NM_001009944.2:c.9986C>T - r.(?) p.(Ser3329Phe) - - - - - - - - - - - - - -
19 Unknown +/. ACMG pathogenic g.36341315C>T g.35850413C>T - - NPHS1_000230 ACMG PM1, PM2, PP2, PP3, PP5 PubMed: Marinakis 2021 - rs199646884 Germline/De novo (untested) - - - - - Jan Traeger-Synodinos NPHS1 - - - - - NM_004646.3:c.559G>A - r.(?) p.(Val187Met) - - - - - - - - - - - - - -
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