Individual #00033147

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     
0000026576 - - - Unknown 18y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033215 DNA SEQ;SEQ-NG-S - - PROM1, PRPF31 2 Kornelia Neveling



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
4 Parent #1 +?/. g.16026921T>G g.16025298T>G - - PROM1_000006 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling PROM1 - - - - - 6 NM_006017.2:c.524A>C - - r.(?) p.(Tyr175Ser) - - - - - - - - - - - - - - - - - - -
19 Parent #1 +/. g.54627153G>T g.54123774G>T - - PRPF31_000001 - PubMed: Neveling 2012 - - De novo yes - - 0 - Kornelia Neveling PRPF31 - - - - - 7 NM_015629.3:c.553G>T - - r.(?) p.(Glu185*) - - - - - - - - - - - - - - - - - - -
Legend