Skip to main content
. 2014 Apr 8;99(7):E1316–E1321. doi: 10.1210/jc.2014-1225

Table 2.

Clinical Characteristics of Patients with Germline RASAL1 Alterations

CCF ID CC Score Sex Clinical Features RASAL1 Protein Prediction
SIFT PolyPhen 2 Condel
6098 15 F FTC (age 41 y); goiter; macrocephaly; fibroids; hemangioma c.982C>T; R328W Deletrious Deleterious Deleterious
7119 4 F FTC (age 59 y); breast cancer (lobular + contralateral infiltrating ductal carcinoma at age 62 y); fibroids; benign breast disease c.982C>T; R328W Deleterious Deleterious Deleterious