Individual #00143833

ID_report 28548312-Fam2
Reference PubMed: Molin 2017
Remarks 2-generation family, 6 affecteds (3F, 3M), unaffected heterozygous carrier parents
Gender F;M
Consanguinity yes
Country Morocco
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 6
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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000116611 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000144692 DNA SEQ - - CYP2R1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
11 Both (homozygous) +/. g.14907393A>G g.14885847A>G - - CYP2R1_000002 - PubMed: Molin 2017 - - Germline yes - - 0 - Johan den Dunnen CYP2R1 - - - - - 2 NM_024514.4:c.296T>C - - r.(?) p.(Leu99Pro) - - - - - - - - - - - - - - - - - - -
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