Individual #00380422

ID_report DRAGoN_5
Reference -
Remarks -
Gender -
Consanguinity -
Country Viet Nam
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NPHS
Owner name Kar-Hui Ng
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Kar-Hui Ng
Date created 2021-08-17 08:39:30 +02:00 (CEST)
Date last edited 2021-08-18 11:08:12 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381636 DNA SEQ-NG - - COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, NPHS1, NPHS2 2 Kar-Hui Ng



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 +?/. ACMG likely pathogenic g.179521812C>A g.179552677C>A - - NPHS2_000192 - - - - Germline ? - - - - Kar-Hui Ng NPHS2 - - - - - NM_014625.2:c.799G>T - r.(?) p.(Asp267Tyr) - - - - - - - - - - - - - -
1 Unknown +/. ACMG pathogenic g.179533909_179533910del g.179564774_179564775del - - NPHS2_000193 - - - - Germline - - - - - Kar-Hui Ng NPHS2 - - - - - NM_014625.2:c.293_294del - r.(?) p.(Leu98Trpfs*4) - - - - - - - - - - - - - -
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