Individual #00416244

ID_report AD01-II:3
Reference PubMed: Chen 2014
Remarks family AD01, individual II:3
Gender M
Consanguinity -
Country -
Population white British
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-25 20:00:12 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000308011 best corrected visual acuity right, left eye: hand moving/40cm, hand moving/10cm; refraction: NA; funduscopy both eyes: macular degeneration: severe; optic disk: waxy; artery attenuation: yes; pigment deposits: yes; electroretinography: undetectable; visual field right/left eye: <10deg/<5deg - retinitis pigmentosa Familial, autosomal dominant 58y - 15y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000417524 DNA SEQ-NG;SEQ blood targeted sequence capture microarray - RD-189 array PRPF4 1 LOVD



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

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Protein     

P-domain     

Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
9 Paternal (inferred) +?/. - likely pathogenic g.116050463C>T g.113288183C>T PRPF4 c.C944T (p.Pro315Leu) - PRPF4_000027 heterozygous PubMed: Chen 2014 - - Germline yes 1/225 tested RP cases (1 family) - - - LOVD PRPF4 - - - - - NM_004697.4:c.944C>T - r.(?) p.(Pro315Leu) - - - - - - - - - - - - - -
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