Individual #00248025

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Mexico
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases CTNS
Owner name Miguel Angel Alcántara-Ortigoza
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Miguel Angel Alcántara-Ortigoza
Date created 2010-06-18 20:24:06 +02:00 (CEST)
Date last edited N/A


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249130 DNA;RNA PCR;SEQ - - CTNS 2 Miguel Angel Alcántara-Ortigoza



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
17 Parent #1 +/? - pathogenic g.? - 57 Kb deletion - CTNS_000001 - - - - Unknown - - - - - Miguel Angel Alcántara-Ortigoza CTNS - - - - 1_10 NM_001031681.2:c.?_(62_853)del - r.0 p.0 - - - - - - - - - - - - - -
17 Parent #2 +/. - pathogenic g.(3543562_3550737)_(3552226_3558291)del g.(3640268_3647443)_(3648932_3654997)del 62-?_225+?del - CTNS_000041 - - - - Unknown - - - - - Miguel Angel Alcántara-Ortigoza CTNS - - - - 3i NM_001031681.2:c.(61+1_62-1)_(225+1_226-1)del - r.62_225del p.(Glu21Glyfs*49) - - - - - - - - - - - - - -
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