Individual #00296609

ID_report Pat42
Reference PubMed: Taylor 2014
Remarks -
Gender M
Consanguinity -
Country Hungary
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-08 15:05:07 +02:00 (CEST)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000224015 multiple mitochondrial respiratory chain complex deficiency - muscle affected; central nervous system not affected; heart not affected; liver not affected; raised CK Unknown 14y - 6y - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000297719 DNA SEQ;SEQ-NG - WES - 8 Johan den Dunnen



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
7 Parent #1 ?/. - VUS g.144061500G>T g.144364407G>T - - ARHGEF5_000007 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen ARHGEF5 - - - - - NM_005435.3:c.1738G>T - r.(?) p.(Gly580Cys) - - - - - - - - - - - - - -
7 Parent #2 ?/. - VUS g.144070303A>G g.144373210A>G - - ARHGEF5_000008 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen ARHGEF5 - - - - - NM_005435.3:c.4066A>G - r.(?) p.(Asn1356Asp) - - - - - - - - - - - - - -
11 Parent #1 ?/. - VUS g.111896251G>C g.112025527G>C - - DLAT_000001 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen DLAT - - - - - NM_001931.4:c.55G>C - r.(?) p.(Glu19Gln) - - - - - - - - - - - - - -
11 Parent #2 ?/. - VUS g.111899635A>G g.112028911A>G - - DLAT_000018 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen DLAT - - - - - NM_001931.4:c.626A>G - r.(?) p.(Gln209Arg) - - - - - - - - - - - - - -
11 Parent #1 ?/. - benign g.111957665G>A g.112086941G>A - - SDHD_000011 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen SDHD - - - - - NM_003002.2:c.34G>A - r.(?) p.(Gly12Ser) - - - - - - - - - - - - - -
11 Parent #2 ?/? - VUS g.111965600T>C g.112094876T>C - - SDHD_000184 Align GVGD: Class C65 (most likely to affect function). Large nonpolar AA to small polar AA. Poorly conserved, high Grantham score (145). PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen SDHD - - - - - NM_003002.2:c.386T>C - r.(?) p.(Leu129Ser) - - - 144.08 0.665 0.03 missense - - - - - - -
19 Parent #2 ?/. - VUS g.630130C>T g.630130C>T - - POLRMT_000008 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen POLRMT - - - - - NM_005035.3:c.232G>A - r.(?) p.(Val78Met) - - - - - - - - - - - - - -
19 Parent #1 ?/. - VUS g.632915G>A g.632915G>A - - POLRMT_000009 - PubMed: Taylor 2014 - - Germline - - - - - Johan den Dunnen POLRMT - - - - - NM_005035.3:c.112C>T - r.(?) p.(Pro38Ser) - - - - - - - - - - - - - -
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