Individual #00019411

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     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000017212 - - - Familial, autosomal recessive - - - - - Elisabet Ars Criach



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019396 DNA SEQ;SEQ-NG-I - - NPHS1, PLCE1 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     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
10 Maternal (confirmed) ?/. g.96018585C>T g.94258828C>T - - PLCE1_000002 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach PLCE1 - - - - - 12 NM_016341.3:c.3583C>T - - r.(?) p.(Arg1195Trp) - - - - - - - - - - - - - - - - - - -
19 Paternal (confirmed) +?/. g.36339610G>A g.35848708G>A - - NPHS1_000047 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach NPHS1 - - - - - 9 NM_004646.3:c.1099C>T - - r.(?) p.(Arg367Cys) - - - - - - - - - - - - - - - - - - -
19 Maternal (confirmed) ?/. g.36342200C>T g.35851298C>T - - NPHS1_000147 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach NPHS1 - - - - - 3 NM_004646.3:c.361G>A - - r.(?) p.(Glu121Lys) - - - - - - - - - - - - - - - - - - -
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