Individual #00033130

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RP
Owner name Kornelia Neveling


Phenotypes

retinitis pigmentosa (RP) (RP)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000026559 Wilm's tumor - - Unknown 4y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033198 DNA SEQ;SEQ-NG-S - - ABCA4, GUCY2D, NPHP3, PDE6B, RP9 7 Kornelia Neveling



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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     
1 Parent #1 -/. g.94461717C>A g.93996161C>A - - ABCA4_000003 predicted benign PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling ABCA4 - - - - - 49 NM_000350.2:c.6764G>T - - r.(?) p.(Ser2255Ile) - - - - - - - - - - - - - - - - - - -
1 Parent #1 -/. g.94512565C>T g.94047009C>T - - ABCA4_000002 predicted benign PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling ABCA4 - - - - - 19 NM_000350.2:c.2828G>A - - r.(?) p.(Arg943Gln) - - - - - - - - - - - - - - - - - - -
3 Parent #2 +?/. g.132433942T>A - - - NPHP3_000002 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling NPHP3 - - - - - 5 NM_153240.3:c.944A>T - - r.(?) p.(Asp315Val) - - - - - - - - - - - - - - - - - - -
3 Parent #1 -/. g.132441046C>T - - - NPHP3_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling NPHP3 - - - - - 1 NM_153240.3:c.154G>A - - r.(?) p.(Ala52Thr) - - - - - - - - - - - - - - - - - - -
4 Parent #1 +?/. g.647730C>A g.653941C>A - - PDE6B_000014 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling PDE6B - - - - - 4 NM_000283.3:c.801C>A - - r.(?) p.(Tyr267*) - - - - - - - - - - - - - - - - - - -
7 Parent #1 ?/. g.33134883T>C g.33095271T>C - - RP9_000001 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RP9 - - - - - 6 NM_203288.1:c.629A>G - - r.(?) p.(Lys210Arg) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/. g.7919754C>T g.8016436C>T - - GUCY2D_000006 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling GUCY2D - - - - - 18i NM_000180.3:c.3225-7C>T - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
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