Individual #00033118

ID_report -
Reference -
Remarks -
Gender F
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     
0000026547 - - - Unknown 15y - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033186 DNA SEQ;SEQ-NG-S - - CACNA1F, RPGR, SNRNP200 3 Kornelia Neveling



Variants

3 entries on 1 page. Showing entries 1 - 3.
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     
2 Parent #1 -/. g.96944756A>G g.96279018A>G - - SNRNP200_000004 predicted benign PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling SNRNP200 - - - - - 36i NM_014014.4:c.5134-20T>C - - r.(spl?) p.(?) - - - - - - - - - - - - - - - - - - -
X Parent #1 ?/. g.38147286_38147288del g.38288033_38288035del - - RPGR_000408 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RPGR - - - - - 14 NM_000328.2:c.1579_1581del - - r.(?) p.(Gln527del) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. g.49082499C>T - - - CACNA1F_000001 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling CACNA1F - - - - - 13 NM_005183.2:c.1556G>A - - r.(?) p.(Arg519Gln) - - - - - - - - - - - - - - - - - - -
Legend