Individual #00405367

ID_report PatEC
Reference PubMed: Buesa 1996
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
Gender M
Consanguinity yes
Country Netherlands
Population Turkey
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases HMGCLD
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 2022-03-17 17:09:10 +01:00 (CET)
Date last edited 2022-03-17 17:19:10 +01:00 (CET)


Phenotypes

HMG-CoA lyase deficiency (HMGCLD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000297913 see paper; ..., 4d-tachypnea, hepatomegaly, lethargy, hypotonia HMG-CoA lyase deficiency HMGCLD Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000406607 DNA;RNA RT-PCR;SEQ;Southern - - HMGCL 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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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     
1 Both (homozygous) +/. - pathogenic (recessive) g.24130889C>G - - - HMGCL_000014 - PubMed: Buesa 1996 - - Germline - - - - - Johan den Dunnen HMGCL - - - - 8i NM_000191.2:c.876+1G>C - r.[751_876del,876_877ins[c;876+1_876+78]] p.[Met231_Thr292del,Gly393Leufs*18] - - - - - - - - - - - - - -
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