KRIT1
| is a | gene |
| is | mentioned by |
| ClinVar | KRIT1 |
| GeneCards | KRIT1 |
| Diseases | KRIT1 |
| wikipedia | KRIT1 |
| KRIT1 | |
| gopubmed | KRIT1 |
| EVS | KRIT1 |
| HEFalMp | KRIT1 |
| MyGene2 | KRIT1 |
| 23andMe | KRIT1 |
| # SNPs | 24 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5002514 | |||
| rs1057517752 | 5.2 | 92,234,525 | |
| rs1057517753 | 5.2 | 92,225,770 | |
| rs1057517754 | 0 | 92,221,937 | |
| rs1057518665 | 5.2 | 92,241,108 | |
| rs1057521140 | 5.2 | 92,237,721 | |
| rs1064793348 | 5.2 | 92,213,260 | |
| rs137853139 | 6.7 | 92,236,488 | |
| rs137853140 | 6.7 | 92,235,531 | |
| rs267607203 | 6.7 | 92,222,870 | |
| rs267607204 | 6.7 | 92,234,451 | |
| rs374303823 | 5.2 | 92,214,762 | |
| rs886039400 | 5.2 | 92,241,100 | |
| rs886039401 | 0 | 92,226,525 | |
| rs886039402 | 0 | 92,222,966 | |
| rs886039571 | 5.2 | 92,213,981 | |
| rs886039572 | 5.2 | 92,213,903 | |
| rs886039659 | 5.2 | 92,234,851 | |
| rs886041209 | 5.2 | 92,241,101 | |
| rs886041415 | 5.2 | 92,222,877 | |
| rs886041557 | 5.2 | 92,225,770 | |
| rs886041572 | 5.2 | 92,214,655 | |
| rs886043300 | 5.2 | 92,235,417 | |
| rs965713946 | 5.2 | 92,235,648 |
The KRIT1 gene (also known as CCM1) provides instructions for making a protein that strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. More than 100 KRIT1 gene mutations have been identified in families with cerebral cavernous malformations, which can cause health problems such as headaches, seizures, and bleeding in the brain (cerebral hemorrhage) in some people.GHR
Mutations in the KRIT1 gene account for up to 50 percent of all familial cerebral cavernous malformation cases. One particular mutation, rs267607203 (c.1363C>T), is responsible for up to 70 percent of cases in people of Hispanic heritage. This mutation changes a single DNA building block (nucleotide) at position 1363 in the KRIT1 gene.GHR
