Individual #00152532

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country (Germany)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name IMGAG


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     
0000125493 - - Unknown - - Mitochondrial encephalopathy (HP:0006789); Lactic acidosis (HP:0003128) - - - - - IMGAG



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153389 DNA SEQ - - - 2 IMGAG



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     

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     
9 Unknown +/. - pathogenic g.136218829_136218830del g.133351974_133351975del 845_846delCT - SURF1_000025 - - - - Unknown - - - 0 - IMGAG SURF1 - - - - - - NM_003172.3:c.845_846del - r.(?) p.(Ser282Cysfs*9) - - - - - - - - - - - - - - - - - - - -
9 Unknown +/. - pathogenic g.136221516_136221525delinsAT g.133354661_133354670delinsAT 312_321delGGCTGGCAGAinsAT - SURF1_000026 - - - - Unknown - - - 0 - IMGAG SURF1 - - - - - - NM_003172.3:c.312_321delinsAT - r.(?) p.(Leu105*) - - - - - - - - - - - - - - - - - - - -
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