Individual #00335784

ID_report MCADD_P1
Reference -
Remarks -
Gender M
Consanguinity no
Country China
Population Chinese
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ACADMD
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu


Phenotypes

medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD) (ACADMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000253702 convulsion coma - - Familial, autosomal recessive - 02y03m - - - Wenjuan Qiu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337013 DNA SEQ blood - ACADM 2 Wenjuan Qiu



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     
1 Maternal (confirmed) ?/. ACMG likely pathogenic (recessive) g.76200549T>G - - - ACADM_000028 - - - - Germline yes - - - - Wenjuan Qiu ACADM - - - - - 6 NM_000016.4:c.461T>G - r.(?) p.(Leu154Trp) - - - - - - - - - - - - - - - - - - - -
1 Paternal (confirmed) ?/. ACMG VUS g.76211559T>C - - - ACADM_000031 - - - - Germline - - - - - Wenjuan Qiu ACADM - - - - - 8 NM_000016.4:c.668T>C - r.(?) p.(Ile223Thr) - - - - - - - - - - - - - - - - - - - -
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