Individual #00033122

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     
0000026551 - - - Unknown 27y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033190 DNA SEQ;SEQ-NG-S - - PDE6B 3 Kornelia Neveling



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
4 Parent #1 ?/. g.651287_651299delinsTGGCAGGGGCAGGT g.657498_657510delinsTGGCAGGGGCAGGT 1401+4_1401+16delins14 - PDE6B_000004 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 10i NM_000283.3:c.1401+4_1401+16delinsTGGCAGGGGCAGGT - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +?/. g.657565_657607delinsGG g.663776_663818delinsGG - - PDE6B_000007 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 16 NM_000283.3:c.1927_1969delinsGG - - r.(?) p.(Asn643Glyfs*29) - - - - - - - - - - - - - - - - - - -
4 Parent #1 +?/. g.660377G>A g.666588G>A - - PDE6B_000008 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 20 NM_000283.3:c.2326G>A - - r.(?) p.(Asp776Asn) - - - - - - - - - - - - - - - - - - -
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