Screening #0000032407

Individual ID 00032340
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks -
Variants found? 4
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
CRB2 crumbs homolog 2 (Drosophila) 9 q33.2 1 68 62 2018-06-20 FSGS-9, VMCKD
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19 q12-q13.1 1 317 192 2019-07-05 NPHS, NPHS-1
PKD1 polycystic kidney disease 1 (autosomal dominant) 16 p13.3 1 1692 1394 2019-09-24 ADPKD, PKD, PKD-1
SRPX2 sushi-repeat containing protein, X-linked 2 X q21.33-q23 1 65 48 2019-07-12 ID, RESDX



Variants found

4 entries on 1 page. Showing entries 1 - 4.
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     
9 Both (homozygous) +/. g.126133229C>T - - - CRB2_000009 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Germline yes - - 0 - Johan den Dunnen CRB2 - - - - - 7 NM_173689.5:c.1897C>T - - r.(?) p.(Arg633Trp) - - - - - - - - - - - - - - - - - - -
16 Parent #1 ?/. g.2149763T>C g.2099762T>C 10141A>G (His3311Arg) - PKD1_000543 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Unknown - - - 0 - Johan den Dunnen PKD1 - - - - - - NM_001009944.2:c.9932A>G - VUS r.(?) p.(His3311Arg) - - - - - - - - - - - - - - - - - - -
19 Paternal (confirmed) +/. g.36338942C>T g.35848040C>T - - NPHS1_000151 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Germline - - - 0 - Johan den Dunnen NPHS1 - - - - - i NM_004646.3:c.1440+1G>A - - r.spl? p.? - - - - - - - - - - - - - - - - - - -
X Unknown -?/. g.99922289A>G g.100667292A>G Asn327Ser - SRPX2_000018 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Unknown - - - 0 - Johan den Dunnen SRPX2 - - - - - - NM_014467.2:c.980A>G - - r.(?) p.(Asn327Ser) - - - - - - - - - - - - - - - - - - -
Legend