Individual #00218753

ID_report patient
Reference Journal: Jelsig 2016
Remarks -
Gender -
Consanguinity -
Country (Denmark)
Population (European)
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPS
Owner name Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Hermansky-Pudlak syndrome (HPS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000167289 HPS - - Unknown - - - - - Karl Heinimann



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219824 DNA SEQ-NG-I - screening SMAD4 1 Karl Heinimann



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/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     
18 Unknown -/? ACMG benign g.48575235G>A g.51048865G>A - - SMAD4_000127 ACMG PP3, BP6 Journal: Jelsig 2016 - rs200772603 Germline - - - 0 - Karl Heinimann SMAD4 - - - - 3i NM_005359.5:c.424+5G>A - r.spl? p.? - - - - - - - - - - - - - - - - - - -
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