Individual #00413746

ID_report Patient 7
Reference PubMed: Giannelou-2018
Remarks -
Gender F
Consanguinity no
Country -
Population Mixed European
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 Julia Lopez
Date created 2022-07-22 03:34:11 +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     
0000305711 Retinitis pigmentosa. Decreased night time vision; Mild developmental delay. History of central catheter-related venous thrombosis of superior vena cava complicated by pseudotumor cerebri. syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD) - Unknown - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415026 DNA;RNA SEQ-NG;SEQ Peripheral blood mononuclear cells (PBMCs) WES TRNT1 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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
3 Parent #1 +/. - pathogenic g.3179124C>T - T110I/ D128G - TRNT1_000023 - PubMed: Giannelou-2018 - - Germline - - - - - LOVD TRNT1 - - - - 3 NM_182916.2:c.329C>T - r.(?) p.(Thr110Ile) - - - - - - - - - - - - - -
3 Parent #2 +/. - pathogenic g.3182234A>G - T110I/ D128G - TRNT1_000025 - PubMed: Giannelou-2018 - rs148398677 Germline - - - - - LOVD TRNT1 - - - - 4 NM_182916.2:c.383A>G - r.(?) p.(Asp128Gly) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.