Individual #00092238

ID_report -
Reference PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016
Remarks 2-generation family, affectedmother and son
Gender F;M
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases COXPD-11, PCTT
Owner name Johan den Dunnen


Phenotypes

pancreatitis (PCTT) (PCTT)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000070570 - Familial, autosomal dominant - - - - - pancreatitis, hereditary - Johan den Dunnen

combined oxidative phosphorylation deficiency, type 11 (COXPD-11) (COXPD-11)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000070569 severe IDD, congenital lactic acidosis, severe myopathy, hearing loss, renal failure, dysautonomia - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000092379 DNA SEQ;SEQ-NG - - PRSS1, RMND1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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VIP     

Methylation     

Owner     

Gene     

Effect     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Protein/Legacy     

CodonNr     

Method     

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     

Protein/Stain     

Protein level     
7 Parent #1 g.142458451A>C g.142750600A>C - - PRSS1_000008 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Unknown - - - 0 - Johan den Dunnen PRSS1 +/. - - - - - - NM_002769.4:c.86A>C - - r.(?) p.(Asn29Thr) - - - - - - - - - - - - - - - - - - - - - - -
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