Screening #0000018436

Individual ID 00018452
Template DNA
Technique SEQ-NG;SEQ-NG-I
Tissue -
Remarks -
Variants found? 3
Owner name Elisabet Ars Criach


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1



Variants found

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

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     
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) - - - - - - - - - - - - - - - - - - -
Legend