Individual #00039398

ID_report -
Reference PubMed: Bosch 2016, Journal: Bosch 2016
Remarks -
Gender M
Consanguinity no
Country Netherlands
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CVI, ID
Owner name Danielle Bosch


Phenotypes

cerebral visual impairment (CVI) (CVI)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000078834 see paper; ... - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000039639 DNA SEQ-NG - - - 4 Danielle Bosch



Variants

4 entries on 1 page. Showing entries 1 - 4.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
1 Unknown g.162492294C>T g.162522504C>T - - UHMK1_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - 0 - Danielle Bosch UHMK1 +?/. - - - - - 8 NM_175866.4:c.1214C>T - - r.(?) p.(Pro405Leu) - - - - - - - - - - - - - - - - - - - - - - -
1 Unknown g.203025958C>T g.203056830C>T - - PPFIA4_000002 probably mosaic PubMed: Bosch 2016, Journal: Bosch 2016 - - Somatic - - - 0 - Danielle Bosch PPFIA4 +?/. - - - - - 6 NM_015053.1:c.769C>T - - r.(?) p.(Gln257*) - - - - - - - - - - - - - - - - - - - - - - -
11 Unknown g.4566479C>T g.4545249C>T - - OR52M1_000001 - PubMed: Bosch 2016, Journal: Bosch 2016 - - De novo - - - 0 - Danielle Bosch OR52M1 -?/. - - - - - 1 NM_001004137.1:c.59C>T - - r.(?) p.(Pro20Leu) - - - - - - - - - - - - - - - - - - - - - - -
X Maternal (confirmed) g.19398315C>T g.19380197C>T - - MAP3K15_000018 - PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - Danielle Bosch MAP3K15 -?/. - - - - - 19 NM_001001671.3:c.2512G>A - - r.(?) p.(Gly838Ser) - - - - - - - - - - - - - - - - - - - - - - -
Legend