Intracranial Aneurysm
From SNPedia
A brain aneurysm, also called a cerebral or intracranial aneurysm, is an abnormal bulging outward of one of the arteries in the brain. www.brainaneurysm.com
[PMID 27895300] A paper published in late 2016 found rare heterozygous variants in the THDS1 gene associated with intracranial aneuryms and potentially therefore [https://en.wikipedia.org/wiki/Subarachnoid_hemorrhage subarachnoid hemorrhage} (i.e. a type of cerebral stroke). The variants found included:
| rsid | hg19 position | Synonyms | On chip? |
|---|---|---|---|
| 13:52976721 | c.15G>C, p.L5F | ||
| 13:52952757 | c.1348C>T, p.R450X | ||
| rs776400380 | 13:52952727 | c.1378C>T, p.R460W | |
| rs201805081 | 13:52952708 | c.1397A>G, p.E466G | |
| rs141140186 | 13:52952306 | c.1799G>A, p.G600E | |
| 13:52952189 | c.1916C>T, p.P639L | ||
| rs371717283 | 13:52952147 | c.1958C>T, p.T635I | |
| rs780150341 | 13:52951782 | c.2323T>C, p.S775P |
