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You are viewing an old version of this page that was saved on January 11, 2010 at 11:01am by Abraham Rosenbaum.
The variant has been reported causative for congenital adrenal hyperplasia, but a later report reclassifies it as a benign polymorphism after it was seen in one control.
Insufficiently evaluated benign
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Lee HH, Won GS, Chao HT, Lee YJ, Chung BC. Novel missense mutations, GCC
[Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause
steroid 11beta-hydroxylase deficiency in the Chinese. Clin Endocrinol (Oxf). 2005
Apr;62(4):418-22. PubMed PMID: 15807871.