Individual #00081059

ID_report -
Reference Trujillano et al., submitted
Remarks unaffected parents
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MTDPS-3
Owner name Daniel Trujillano


Phenotypes

mitochondrial DNA depletion syndrome (hepatocerebral), type 3 (MTDPS-3) (MTDPS-3)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000060628 - Familial, autosomal recessive - - - - - m DNA depletion syndrome 3 (hepatocerebral type) (OMIM:251880) - Daniel Trujillano



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081171 DNA SEQ;SEQ-NG - - DGUOK 1 Daniel Trujillano



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
2 Both (homozygous) g.74185362T>G - - - DGUOK_000007 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano DGUOK, DGUOK-AS1 +/. - - - - - - NM_080916.1:c.797T>G, XR_158985.1:n.184-28A>C - ACMG: 5 r.(?), p.(Leu266Arg), - - - - - - - - - - - - - - - - - - - - - - -
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