Individual #00033152

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     
0000026581 - - - Unknown 45y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033220 DNA SEQ;SEQ-NG-S - - ABCA4, AIPL1, GUCY2D, NR2E3 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     
1 Parent #1 -/. g.94461717C>A g.93996161C>A - - ABCA4_000003 predicted benign PubMed: Neveling 2012 - - Germline no - - 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 no - - 0 - Kornelia Neveling ABCA4 - - - - - 19 NM_000350.2:c.2828G>A - - r.(?) p.(Arg943Gln) - - - - - - - - - - - - - - - - - - -
15 Parent #1 +/. g.72103178G>A - - - NR2E3_000082 potentially de novo PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling NR2E3 - - - - - 1 NM_014249.2:c.95G>A - - r.(?) p.(W32X) - - - - - - - - - - - - - - - - - - -
17 Parent #1 +?/. g.6329003C>G - - - AIPL1_000002 predicted to affect function, but insufficient evidence for definite conclusion, disease-related variant in other gene; not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling AIPL1 - - - - - 6 NM_014336.3:c.932G>C - - r.(?) p.(Arg311Pro) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/. g.7906426T>C g.8003108T>C - - GUCY2D_000007 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling GUCY2D - - - - - 2 NM_000180.3:c.61T>C - - r.(?) p.(Trp21Arg) - - - - - - - - - - - - - - - - - - -
Legend