Individual #00324554

ID_report Pat8
Reference PubMed: Spentchian 2006
Remarks -
Gender -
Consanguinity -
Country Germany
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     
0000243081 hypophosphatasia - infantile Familial, autosomal recessive - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000325746 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 +?/. - likely pathogenic (recessive) g.21890603C>T - S164L - ALPL_000185 - PubMed: Spentchian 2006 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - - NM_000478.4:c.542C>T - r.(?) p.(Ser181Leu) - - - - - - - - - - - - - 116U/L (parent, subnormal) - - - - -
1 Parent #1 +?/. - likely pathogenic (recessive) g.(21903135_21903875)_(21904905_?)del g.(21576642_21577382)_(21578412_?)del del ex12 (3' end) - ALPL_000434 - PubMed: Spentchian 2006 - - Germline - - - 0 - Johan den Dunnen ALPL - - - - 11i_12_ NM_000478.4:c.(1309+1_1310-1)_*764{0} - r.? p.? - - - - - - - - - - - - - 36 U/L parent - - - - -
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