Individual #00033127

ID_report -
Reference -
Remarks -
Gender F
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     
0000026556 - - - Unknown - - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033195 DNA SEQ;SEQ-NG-S - - CA4, GUCA1B, RGR 3 Kornelia Neveling



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
6 Parent #1 -/. g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling GUCA1B - - - - - 3i NM_002098.5:c.475+8G>A - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
10 Parent #1 -/. g.86017767A>G g.84258011A>G - - RGR_000001 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling RGR - - - - - 6i NM_002921.3:c.756+5A>G - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/. g.58235763G>A g.60158402G>A - - CA4_000001 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling CA4 - - - - - 7 NM_000717.3:c.700G>A - - r.(?) p.(Val234Ile) - - - - - - - - - - - - - - - - - - -
Legend