Individual #00393293

ID_report PatD1
Reference PubMed: Ichikawa 2008
Remarks -
Gender -
Consanguinity -
Country United States
Population white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases XLHR
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

rickets, hypophosphatemic, X-linked dominant (XLHR) (XLHR)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000286534 - hypophosphatemic rickets XLHR Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394541 DNA SEQ - - PHEX 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     

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 Parent #1 ?/. - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen PHEX - - - - - 22 NM_000444.4:c.*58C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
X Parent #1 +/. - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen PHEX - - - - - 22 NM_000444.4:c.*231A>G - r.? p.? - - - - - - - - - - - - - - - - - - -
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