Individual #00033138

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     
0000026567 hypertension - - Unknown - - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033206 DNA SEQ;SEQ-NG-S - - GUCY2D, PDE6B, RP1, SEMA4A 7 Kornelia Neveling



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
1 Parent #1 ?/. g.156128493C>A g.156158702C>A - - SEMA4A_000003 predicted unknown, disease-related variants in other gene PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SEMA4A - - - - - 5i NM_001193301.1:c.463-17C>A - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
1 Parent #2 -/. g.156146640G>A g.156176849G>A - - SEMA4A_000002 predicted benign, disease-related variants in other gene; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SEMA4A - - - - - 15 NM_001193301.1:c.2138G>A - - r.(?) p.(Arg713Gln) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/. g.629702T>C g.635913T>C - - PDE6B_000013 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling PDE6B - - - - - 3 NM_000283.3:c.655T>C - - r.(?) p.(Tyr219His) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +?/. g.661800G>C g.668011G>C - - PDE6B_000009 predicted to affect function, but insufficient evidence for definite conclusion, disease-related variants in other gene PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling PDE6B - - - - - 21i NM_000283.3:c.2503+5G>C - - r.(spl?) p.? - - - - - - - - - - - - - - - - - - -
8 Parent #1 +/. g.55533894_55533895dup g.54621334_54621335dup - - RP1_000090 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RP1 - - - - - 2 NM_006269.1:c.368_369dup - - r.(?) p.(Pro124Alafs*20) - - - - - - - - - - - - - - - - - - -
8 Parent #2 +/. g.55540684_55540685del g.54628124_54628125del 4241_4242del - RP1_000091 - PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RP1 - - - - - 4 NM_006269.1:c.4242_4243del - - r.(?) p.(His1414Glnfs*5) - - - - - - - - - - - - - - - - - - -
17 Parent #1 ?/. g.7906519G>T g.8003201G>T - - GUCY2D_000001 disease-related variants in other gene; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling GUCY2D - - - - - 2 NM_000180.3:c.154G>T - - r.(?) p.(Ala52Ser) - - - - - - - - - - - - - - - - - - -
Legend