Individual #00037288

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000156869 mitochondrial disease? - Unknown - - suspected mitochondriopathy (affected child), defect of respiratory chain complex I and IV , parents consanguine - - - - - Andreas Laner



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037358 DNA SEQ - - TSFM 1 Andreas Laner



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
12 Parent #1 +/. - pathogenic g.58190385C>T g.57796602C>T - - TSFM_000002 - - - - Germline - - - 0 - Andreas Laner TSFM - - - - - 7 NM_001172696.1:c.*19C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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