Individual #00033144

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     
0000026573 - - - Unknown 7y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033212 DNA SEQ;SEQ-NG-S - - CRB1, PDE6B, SEMA4A 5 Kornelia Neveling



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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.156146546C>T g.156176755C>T - - SEMA4A_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling SEMA4A - - - - - 15 NM_001193301.1:c.2044C>T - - r.(?) p.(Pro682Ser) - - - - - - - - - - - - - - - - - - -
1 Parent #1 +?/. g.197297616C>G g.197328486C>G - - CRB1_000031 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease, not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling CRB1 - - - - - 2 NM_201253.2:c.135C>G - - r.(?) p.(Cys45Trp) - - - - - - - - - - - - - - - - - - -
4 Parent #1 -/. g.629702T>C g.635913T>C - - PDE6B_000013 predicted benign PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 3 NM_000283.3:c.655T>C - - r.(?) p.(Tyr219His) - - - - - - - - - - - - - - - - - - -
4 Parent #2 ?/. g.651287C>T g.657498C>T - - PDE6B_000005 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling PDE6B - - - - - 10i NM_000283.3:c.1401+4C>T - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
4 Parent #2 +?/. 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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