Individual #00324687

ID_report patient
Reference PubMed: Mentrup 2016
Remarks 2-generation family, 1 affected unaffected heterozygous carrier parents
Gender M
Consanguinity yes
Country Germany
Population Turkey
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     
0000243187 hypophosphatasia - see paper; ..., infantile Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325894 DNA;RNA RT-PCR;SEQ - - ALPL 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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 Both (homozygous) -?/. - likely benign g.21831294_21831297del - ATTT[7] - ALPL_000444 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:- - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -?/. - likely benign g.21833225T>C - g.2368T>C - ALPL_000444 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:- - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -?/. - likely benign g.21896766_21896767del - g.48712insAAAAA - ALPL_000445 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:c.-104-90_-104-899insAAAAA - r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) +?/. - pathogenic (recessive) g.21896768_21896787del g.21570275_21570294del 793-14_33del - ALPL_000235 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - 7i NM_000478.4:c.793-30_793-11del - r.[793_862del,649_862del,=] p.[His265fs,Ile218fs,=] - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -?/. - likely benign g.21904206C>T - g.73349C>T - ALPL_000446 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:c.*65C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
1 Both (homozygous) -?/. - likely benign g.21904267A>G - g.73410A>G - ALPL_000447 - PubMed: Mentrup 2016 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:c.*126A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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