Individual #00018452

ID_report -
Reference PubMed: Bullich 2015, Journal: Bullich 2015
Remarks -
Gender -
Consanguinity -
Country Spain
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NPHS
Owner name Elisabet Ars Criach


Phenotypes

nephrotic syndrome (NPHS) (NPHS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

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Phenotype/Onset     

Protein     

Owner     
0000017689 congenital nephrotic syndrome, haematuria - - Familial, autosomal recessive - - - - - Elisabet Ars Criach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000018436 DNA SEQ-NG;SEQ-NG-I - - NPHS1 3 Elisabet Ars Criach



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

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Exon_old     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
2 Paternal (confirmed) +?/. g.228163475G>A g.227298759G>A - - COL4A3_000085 father had non-nephrotic range proteinuria and hematuria at 39y, renal biopsy showed focal and segmental glomerulosclerosis, 51y-reached ESRD, two carrier uncles (haematuria at 61y/56y) PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach COL4A3 - - - - - 43 NM_000091.4:c.3829G>A - - r.(?) p.(Gly1277Ser) - - - - - - - - - - - - - - - - - - -
19 Maternal (confirmed) +/+? g.36322581dup g.35831679dupC - - NPHS1_000112 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach NPHS1 - - - - - 24 NM_004646.3:c.3250dupG - - r.(?) p.(Val1084Glyfs*12) - - - - - - - - - - - - - - - - - - -
19 Paternal (confirmed) +/. g.36341872_36341874del g.35850970_35850972del - - NPHS1_000146 - PubMed: Santín et al. 2011 - - Germline - - - 0 - Elisabet Ars Criach NPHS1 - - - - - 4 NM_004646.3:c.515_517del - - r.(?) p.(Thr172del) - - - - - - - - - - - - - - - - - - -
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