Vitamin D-dependent rickets, type I
OMIM:277440Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | VDR |
|---|---|
| Reference transcript | NM_000376.2 |
| DNA Change | c.217C>T |
| A.A. Change | p.Arg73Stop |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Wiese RJ, Goto H, Prahl JM, Marx SJ, Thomas M, al-Aqeel A, DeLuca HF.Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. Mol Cell Endocrinol. 1993 Jan;90(2):197-201. |