Individual #00324551

ID_report patient
Reference copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab
Remarks -
Gender -
Consanguinity -
Country France
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HPP
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

hypophosphatasia (HPP) (HPP)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000243078 hypophosphatasia - infantile Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325743 DNA SEQ - - ALPL 2 Johan den Dunnen



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     

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     
1 Parent #2 ?/. - VUS g.(21836011_21880470)del(3000) g.(21509518_21553977)del(3000) 3kb del IVS1, g.(15599_18599)del - ALPL_000431 compound heterozygote, copied from {DB:ALPL}, Versailles lab Oct. 2016 - - - Germline - - - 0 - Johan den Dunnen ALPL - - - - 1i NM_000478.4:c.(-105+1_-104-1)del(3000) - r.? p.? - - - - - - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic (recessive) g.(?_21835858)_(21880636_21887118)del g.(?_21509365)_(21554143_21560625)del del ex1-2, g.(1-54621_1-35638)_(44833_46877)del - ALPL_000430 compound heterozygote, copied from {DB:ALPL}, Versailles lab May 2016 - - - Germline - - - 0 - Johan den Dunnen ALPL - - - - _1_2i NM_000478.4:c.-257_(61+1_62-1){0} - r.0? p.0? - - - - - - - - - - - - - - - - - - -
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