Individual #00397282

ID_report Pat3
Reference PubMed: Obara-Moszynska 2020
Remarks -
Gender M
Consanguinity -
Country Poland
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases HR
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

hypophosphataemic rickets (HR)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000290435 hypophosphatemic rickets XLHR bowing lower limbs, short stature, frontal bossing, widening distal parts forearms; no ear problems; gingivitis Unknown 8y 2y3m - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000398522 DNA SEQ - - PHEX 1 Johan den Dunnen



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     

Codon change     

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     
X Unknown +?/. - likely pathogenic (dominant) g.(22212959_22219035)_(2248361_?)del g.(22231076_22237152)_(22251310_?)del del ex 17-22 - PHEX_000521 - PubMed: Obara-Moszynska 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen PHEX - - - - - 16i_22_ NM_000444.4:c.(1700+1_1701-1)_*3357{0} - r.? p.? - - - - - - - - - - - - - - - - - - -
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