Individual #00033095

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     
0000026524 - - - Unknown 6y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033163 DNA SEQ;SEQ-NG-S - - PDE6B, PRPH2, RGR, SNRNP200 5 Kornelia Neveling



Variants

5 entries on 1 page. Showing entries 1 - 5.
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 Parent #1 +?/. g.96940821T>C g.96275083T>C - - SNRNP200_000006 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling SNRNP200 - - - - - 45 NM_014014.4:c.6340A>G - - r.(?) p.(Met2114Val) - - - - - - - - - - - - - - - - - - -
4 Parent #1 +/. g.656978T>C g.663189T>C - - PDE6B_000006 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 15i NM_000283.3:c.1920+2T>C - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +/. g.656978T>C g.663189T>C - - PDE6B_000006 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 15i NM_000283.3:c.1920+2T>C - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
6 Parent #1 +/. g.42689649G>A g.42721911G>A - - PRPH2_000001 variant known to affect function, not present in siblings, potentially contributing to phenotype PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling PRPH2 - - - - - 1 NM_000322.4:c.424C>T - - r.(?) p.(Arg142Trp) - - - - - - - - - - - - - - - - - - -
10 Parent #1 -/. g.86017767A>G g.84258011A>G - - RGR_000001 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RGR - - - - - 6i NM_002921.3:c.756+5A>G - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
Legend