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KRIT1

From SNPedia
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# SNPs24
 Max MagnitudeChromosome positionSummary
i5002514
rs10575177525.292,234,525
rs10575177535.292,225,770
rs10575177545.292,221,937
rs10575186655.292,241,108
rs10575211405.292,237,721
rs10647933485.292,213,260
rs1378531395.292,236,488
rs1378531405.292,235,531
rs2676072035.792,222,870
rs2676072045.792,234,451
rs3743038235.292,214,762
rs8860394005.292,241,100
rs8860394015.292,226,525
rs8860394025.292,222,966
rs8860395715.292,213,981
rs8860395725.292,213,903
rs8860396595.292,234,851
rs8860412095.292,241,101
rs8860414155.292,222,877
rs8860415575.292,225,770
rs8860415725.292,214,655
rs8860433005.292,235,417
rs9657139465.292,235,648

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