Individual #00117376

ID_report 15128933-Pat
Reference PubMed: Cheng 2004
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents
Gender M
Consanguinity ?
Country Nigeria
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases VDDR-1B
Owner name Johan den Dunnen


Phenotypes

vitamin D hydroxylation-deficient rickets, type 1b (VDDR-1B) (VDDR-1B)   Add phenotype for this disease

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Owner     
0000092609 age onset 2-7y; before treatment had low normal serum calcium levels (2.00–2.32 mM; normal 2.12–2.62), low serum phosphate levels (0.84–0.87 mM; normal 0.97–1.45), elevated serum alkaline phosphatase levels (2,360–3,000 u/l; normal 100–320), serum 1alpha,25-dihydroxyvitamin D levels (137–142 pM, normal 48–182), low 25-hydroxyvitamin D levels (10–12 nM; normal 25–137) - - Familial, autosomal recessive - - - bone abnormalities lower extremities - Johan den Dunnen



Screenings


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Owner     
0000117840 DNA SEQ - - CYP2R1 1 Johan den Dunnen



Variants

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Chr     

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Effect     

AscendingDNA change (genomic) (hg19)     

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Protein level     
11 Both (homozygous) +/. g.14907393A>G g.14885847A>G - - CYP2R1_000002 not in 100 African-American control chromosomes PubMed: Cheng 2004, OMIM:var0001 - rs61495246 Germline - - - 0 - Johan den Dunnen CYP2R1 - - - - - 2 NM_024514.4:c.296T>C CYP2R1*2 - r.(?) p.(Leu99Pro) - - - - - - - - - - - - - - - - - - -
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