VDR

Gene name: vitamin D (1,25- dihydroxyvitamin D3) receptor
OMIM ID: 601769
Chromosome location: 12q13.11

Mutations

Disease/Phenotype	Vitamin D-dependent rickets, type I
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.

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