Individual #00033132

ID_report -
Reference PubMed: Neveling 2012
Remarks -
Gender M
Consanguinity no
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     
0000026561 retinal degeneration, severe, early onset (EOSRD) - - Unknown 06y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033200 DNA SEQ;SEQ-NG-S - - ABCA4, EYS, GUCY2D 4 Kornelia Neveling



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
1 Parent #1 +?/. g.94480178G>T g.94014622G>T - - ABCA4_000005 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling ABCA4 - - - - - 38 NM_000350.2:c.5381C>A - - r.(?) p.(Ala1794Asp) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +?/. g.94543278G>A g.94077722G>A - - ABCA4_000004 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling ABCA4 - - - - - 11 NM_000350.2:c.1522C>T - - r.(?) p.(Arg508Cys) - - - - - - - - - - - - - - - - - - -
6 Parent #1 -/- g.65336143G>A g.64626250G>A p.? - EYS_000002 unaffected brother also this variant homozygous PubMed: Neveling 2012 - - Germline no ExAC: 3936, 19366, 441, 0.2032 - 0 - Kornelia Neveling EYS - - - - - 22i NM_001142800.1:c.3444-5C>T - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Parent #1 -/. g.7919754C>T g.8016436C>T - - GUCY2D_000006 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling GUCY2D - - - - - 18i NM_000180.3:c.3225-7C>T - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
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