Individual #00032340

ID_report -
Reference PubMed: Slavotinek 2015, Journal: Slavotinek 2015
Remarks patient, unaffected heterozygous carrier parents
Gender -
Consanguinity ?
Country United States
Population -
Age/Death 00y07m (7 months)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000025806 - - Isolated (sporadic) - - see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .. - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000032407 DNA SEQ;SEQ-NG - - CRB2, NPHS1, PKD1, SRPX2 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
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) - - - - - - - - - - - - - - - - - - -
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