Talk:Rs200482214
From SNPedia
Not in ClinVar Apers0n (talk) 00:12, 18 January 2017 (UTC)
- It looks like it used to be, but has disappeared (?). References to it still say it's pathogenic; example, https://www.ncbi.nlm.nih.gov/books/NBK1156/, supposedly last updated March 2015, showing Arg156Cys as pathogenic in Table 2. Overall it seems unclear why it is currently missing from ClinVar; have any ideas? Greg (talk) 04:46, 19 January 2017 (UTC)
