Individual #00065277

ID_report Family I, II-3
Reference PubMed: Angebault 2015 PubMed: Meunier 2020
Remarks Patient II-3 from Family I: 2-generation family, affected sister/brother, unaffected heterozygous carrier parents
Gender F
Consanguinity yes
Country Morocco
Population -
Age at death >45y (later than 45 years)
VIP -
Data_av -
Treatment -
Panel size 2
Diseases neuropathy, optic
Owner name Pieter Klap
Database submission license No license selected
Created by Pieter Klap
Date created 2016-05-25 13:34:36 +02:00 (CEST)
Date last edited 2022-06-08 08:05:52 +02:00 (CEST)


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     
0000051383 Inherited optic neuropathies (IONs) - Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Central scotoma (HP:0000603); Cerulean cataract (HP:0007976); Abnormal flash visual evoked potentials (HP:0007928); Rod-cone dystrophy (HP:0000510); Perifoveal ring of hyperautofluorescence (HP:0030629); Attenuation of retinal blood vessels (HP:0007843) Familial, autosomal recessive 45y - 06y - - - - Pieter Klap



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065429 DNA SEQ-NG - - RTN4IP1 1 Pieter Klap



Variants

1 entry on 1 page. Showing entry 1.
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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     
6 Both (homozygous) +/. - pathogenic (recessive) g.107070811C>T g.106622936C>T - - RTN4IP1_000001 - PubMed: Angebault 2015 PubMed: Meunier 2020 - - Germline yes - - - - Pieter Klap RTN4IP1 - - - - 2 NM_032730.4:c.308G>A - r.(?) p.(Arg103His) - - - - - - - - - - - - - -
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