Individual #00033134

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     
0000026563 retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability - - Unknown 0d - - - - Kornelia Neveling



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033202 DNA SEQ;SEQ-NG-S - - CEP290, CRX, RIMS1 4 Kornelia Neveling



Variants

4 entries on 1 page. Showing entries 1 - 4.
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     
6 Parent #1 ?/. g.73110390A>G g.72400688A>G - - RIMS1_000002 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling RIMS1 - - - - - 34 NM_014989.5:c.5053A>G - - r.(?) p.(Thr1685Ala) - - - - - - - - - - - - - - - - - - -
12 Parent #2 +/. g.88477732C>A g.88083955C>A - - CEP290_000009 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling CEP290 - - - - - 35i NM_025114.3:c.4705-1G>T - - r.spl p.? - - - - - - - - - - - - - - - - - - -
12 Parent #1 +/. g.88484519delG g.88090742delG - - CEP290_000008 - PubMed: Neveling 2012 - - Germline yes - - 0 - Kornelia Neveling CEP290 - - - - - 30 NM_025114.3:c.3559delC - - r.(?) p.(Leu1187Cysfs*2) - - - - - - - - - - - - - - - - - - -
19 Parent #1 ?/. g.48342796G>A g.47839539G>A - - CRX_000002 - PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling CRX - - - - - 4 NM_000554.4:c.472G>A - - r.(?) p.(Ala158Thr) - - - - - - - - - - - - - - - - - - -
Legend