Individual #00100930

ID_report 22683713-Pat13
Reference PubMed: Wortmann 2012, Journal: Wortmann 2012
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity no
Country Sweden
Population -
Age at death 9y (9 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MEGDEL
Owner name Johan den Dunnen


Phenotypes

3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (MEGDEL) (MEGDEL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000079149 see paper; … - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101352 DNA;RNA RT-PCR;SEQ - - SERAC1 2 Johan den Dunnen



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     
6 Parent #2 +/. - pathogenic g.158534471_158534487delinsCCTGTTGGT g.158113439_158113455delinsCCTGTTGGT 1822_1828+10delTCAGCAGGTATTCACTCinsACCAACAGG - SERAC1_000011 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen SERAC1 - - - - - 16_16i NM_032861.3:c.1822_1828+10delinsACCAACAGG - r.1822_1828+10delinsACCAACAGGins1828+11_1829-1 p.? - - - - - - - - - - - - - - - - - - - -
6 Parent #1 +/. - pathogenic g.158540167C>T g.158119135C>T - - SERAC1_000003 - PubMed: Wortmann 2012, Journal: Wortmann 2012 - - Germline - - - 0 - Johan den Dunnen SERAC1 - - - - - 12 NM_032861.3:c.1202G>A - r.(?) p.(Gly401Asp) - - - - - - - - - - - - - - - - - - - -
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