Individual #00095844

ID_report -
Reference PubMed: Piotrowski 2014, PubMed: Smith 2015
Remarks G> tandem repeat
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases SWNTS1
Owner name Beatrice Parfait
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2017-01-18 17:17:14 +01:00 (CET)
Date last edited 2017-05-23 15:14:31 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000096244 DNA SEQ-NG blood - LZTR1 1 Beatrice Parfait



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     
22 Unknown +/. - pathogenic g.21336687del g.20982398del - - LZTR1_000058 G> tandem repeat PubMed: Piotrowski 2014, PubMed: Smith 2015 - - Unknown - - - - - Beatrice Parfait LZTR1 - - - - 1 NM_006767.3:c.27del - r.(?) p.(Gln10Argfs*15) - - - - - - - - - - - - - -
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