Individual #00018453

ID_report -
Reference PubMed: Bullich 2015, Journal: Bullich 2015
Remarks -
Gender -
Consanguinity -
Country Spain
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases NPHS
Owner name Elisabet Ars Criach
Database submission license No license selected
Created by Elisabet Ars Criach
Date created 2014-07-18 17:57:47 +02:00 (CEST)
Date last edited 2018-02-16 15:19:41 +01:00 (CET)


Phenotypes

nephrotic syndrome (NPHS) (NPHS)   Add phenotype for this disease
Stop! No phenotypes found!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018437 DNA SEQ-NG;SEQ-NG-I - - NPHS2 3 Elisabet Ars Criach



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 g.179528842T>C g.179559707A>G - - NPHS2_000106 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Santín et al. 2011 - - Unknown - - - - - Elisabet Ars Criach NPHS2 - - - - 4 NM_014625.2:c.506T>C - r.(?) p.(Leu169Pro) - - - - - - - - - - - - - -
1 Unknown +?/. - likely pathogenic g.179544726G>T g.179575591C>A - - NPHS2_000002 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Santín et al. 2011 - - Unknown - - - - - Elisabet Ars Criach NPHS2 - - - - 1 NM_014625.2:c.274G>T - r.(?) p.(Gly92Cys) - - - - - - - - - - - - - -
2 Unknown +?/. - likely pathogenic g.228173656T>C g.227308940T>C - - COL4A3_000400 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Unknown - - - - - Elisabet Ars Criach COL4A3 - - - - 49 NM_000091.4:c.4504T>C - r.(?) p.(Phe1502Leu) - - - - - - - - - - - - - -
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