Individual #00335197

ID_report 3806
Reference PubMed: Haer-Wigman 2017
Remarks patient
Gender -
Consanguinity no
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000252912 cone dystrophy - 18y-diagnosis visual impairment Unknown - - - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000336426 DNA SEQ-NG - WES POC1B 2 LOVD



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

RNA change     

Protein     

P-domain     

Exon_old     

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     

Legacy protein change     

Protein level     
12 Parent #2 +?/. - likely pathogenic g.89865509A>G g.89471732A>G - - POC1B_000010 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD POC1B - - - - - - NM_172240.2:c.561-3T>C - r.spl? p.? - - - - - - - - - - - - - - - - - - -
12 Parent #1 +?/. - likely pathogenic g.89918903G>A g.89525126G>A - - POC1B_000014 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD POC1B - - - - - - NM_172240.2:c.94C>T - r.(?) p.(Gln32*) - - - - - - - - - - - - - - - - - - -
Legend   How to query