Individual #00117372

ID_report 28548312-Fam1PatII2
Reference PubMed: Molin 2017
Remarks 2-generation family, 1 affected, unaffected heterozygous carrier parents/brother
Gender M
Consanguinity no
Country France
Population white
Age/Death -
VIP 0
Data_av yes
Treatment 25-OH-D3
Panel size 1
Diseases VDDR-1B
Owner name Arnaud Molin


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     
0000092606 see paper; ... - - Unknown - - - - - Arnaud Molin



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117836 DNA PCR;SEQ;SEQ-NG whole blood - CYP2R1 1 Arnaud Molin



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.14913615_14913628delinsCG g.14892069_14892082delinsCG 124_138delinsCGG - CYP2R1_000001 - PubMed: Molin 2017 - - Germline yes - - 0 - Arnaud Molin CYP2R1 - - - - - 1 NM_024514.4:c.124_137delinsCG - - r.(?) p.(Gly42_Leu46delinsArg) - - - - - - - - - - - - - - - - - - -
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