Individual #00387949

ID_report case
Reference PubMed: Jancsó 2019, Journal: Jancsó 2019
Remarks -
Gender F
Consanguinity -
Country Poland
Population Poland
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases PCTT
Owner name Hasan Bas
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Hasan Bas
Date created 2021-10-31 21:40:51 +01:00 (CET)
Date last edited 2021-11-04 14:34:05 +01:00 (CET)


Phenotypes

pancreatitis (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     
0000281505 Chronic pancreatitis (HP:0006280) Isolated (sporadic) 11y Pancreatitis, Hereditary (OMIM:167800) 11y 09y Acute pancreatitis (HP:0001735) Abnormal thrombosis (HP:0001977), Pancreatitis (HP:0001733), - Hasan Bas



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000389185 DNA SEQ blood - CFTR, CPA1, CTRC, PRSS1, SPINK1 1 Hasan Bas



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     

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 Unknown +?/. - likely pathogenic g.142460395G>A g.142752544G>A - - PRSS1_000065 - PubMed: Jancsó 2019, Journal: Jancsó 2019 - - Germline ? - - - - Hasan Bas PRSS1 - - - - 4 NM_002769.4:c.568G>A - r.(?) p.(Glu190Lys) - - - - - - - - - - - - - -
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