Individual #00103740

ID_report -
Reference PubMed: Neubauer 2018, Journal: Neubauer 2018
Remarks -
Gender M
Consanguinity -
Country Switzerland
Population European
Age/Death 17y (17 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases SUD
Owner name Cordula Haas


Phenotypes

death, sudden, unexplained (SUD) (SUD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000081678 SUD - - Unknown - - - - - Cordula Haas



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000104197 DNA SEQ-NG-I - - - 1 Cordula Haas



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
7 Unknown ?/. g.83764184G>A g.84134868G>A g.65034C>T - SEMA3A_000007 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - rs199979628 Unknown - - - 0 - Cordula Haas SEMA3A - - - - - 2 NM_006080.2:c.196C>T - - r.(?) p.(Arg66Trp) - - - - - - - - - - - - - - - - - - -
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