Individual #00302638

ID_report patient
Reference PubMed: Johnson 2001
Remarks -
Gender F
Consanguinity no
Country China
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MOCOD
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 2020-05-26 19:25:29 +02:00 (CEST)
Date last edited N/A


Phenotypes

deficiency, Molybdenum cofactor (MOCOD) (MOCOD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000229719 molybdenum cofactor deficiency MOCODB see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000303762 DNA;RNA RT-PCR;SEQ - - MOCS2 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     

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     
5 Parent #2 +/. - pathogenic (recessive) g.52404473C>A g.53108643C>A 19G>T (V7F) - MOCS2_000020 - PubMed: Johnson 2001 - - Germline - - - - - Johan den Dunnen MOCS2 - - - - - NM_004531.4:c.-169G>T, NM_176806.3:c.19G>T - r.(?) p.(=), p.(Val7Phe) - - - - - - - - - - - - - -
5 Parent #1 +/. - pathogenic (recessive) g.52405544G>A g.53109714G>A 16C>T (Q6X) - MOCS2_000019 - PubMed: Johnson 2001 - - Germline - - - - - Johan den Dunnen MOCS2 - - - - - NM_004531.4:c.-633C>T, NM_176806.3:c.16C>T - r.(?) p.(=), p.(Gln6*) - - - - - - - - - - - - - -
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