Individual #00361895

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases JBTS17
Owner name Anju Shukla
Database submission license No license selected
Created by Anju Shukla
Date created 2021-04-12 05:50:47 +02:00 (CEST)
Date last edited 2021-04-12 14:15:46 +02:00 (CEST)


Phenotypes

Joubert syndrome, type 17 (JBTS-17) (JBTS17)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000257289 Developmental delay,molar tooth sign and cerebellar vermis agenesis on MRI brain - - Familial, autosomal recessive - - - - - Anju Shukla



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363123 DNA SEQ-NG - - - 1 Anju Shukla



Variants

1 entry on 1 page. Showing entry 1.
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     
5 Both (homozygous) +/. ACMG pathogenic g.37125432G>A - - - C5orf42_000010 - - - - Germline - - - - - Anju Shukla C5orf42 - - - - - NM_023073.3:c.8710C>T - r.(?) p.(Arg2904*) - - - - - - - - - - - - - -
Legend   How to query  


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