Individual #00128568

ID_report Rotterdam 12567
Reference -
Remarks -
Gender -
Consanguinity -
Country (Netherlands)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases NF-1
Owner name Rick van Minkelen


Phenotypes

neurofibromatosis, type 1 (NF-1) (NF-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000100792 - - - Unknown - - - - - Rick van Minkelen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000129406 DNA MLPA blood - NF1 2 Rick van Minkelen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
17 Parent #1 +/+ g.29472548_29531229dup g.31145530_31204211dup 61-10453_1261-2029dup34770 - NF1_000002 - - - - Unknown - - - 0 - Rick van Minkelen NF1 - - - - - 1i_11i NM_000267.3:c.61-10453_1261-2029dup - pathogenic r.? p.? - - - - - - - - - - other/complex other/complex - - - - - - -
17 Parent #1 +/+ g.29553479_29553480insA g.31226461_31226462insA 2029insA - NF1_002253 - - - - Unknown - - - 0 - Rick van Minkelen NF1 - - - - - 18 NM_000267.3:c.2028_2029insA - pathogenic r.(?) p.(Pro677fs) - - - - - - - - - - frameshift insertion - - - - - - -
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