Individual #00164455

ID_report 20673863-PatC
Reference PubMed: Malan 2010
Remarks -
Gender F
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MALNS
Owner name Denny Schanze
Database submission license No license selected
Created by Denny Schanze
Date created 2018-05-18 13:12:36 +02:00 (CEST)
Date last edited 2018-05-19 14:28:52 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165321 DNA PCR;SEQ blood - NFIX 1 Denny Schanze



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     
19 Unknown +/. - pathogenic (dominant) g.13183869C>T g.13073055C>T NM_002501.3:c.568C>T - NFIX_000057 - PubMed: Malan 2010 - - De novo - - - - - Denny Schanze NFIX - - - - , 3 NM_001365902.2:c.568C>T, NM_002501.2:c.568C>T - r.(?) p.(Gln190Ter), p.(Gln190*) - - - - - - - - - - - - - -
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