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CCM2

From SNPedia
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is mentioned by
ClinVarCCM2
GeneCardsCCM2
DiseasesCCM2
wikipediaCCM2
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gopubmedCCM2
EVSCCM2
HEFalMpCCM2
MyGene2CCM2
23andMeCCM2
# SNPs10
 Max MagnitudeChromosome positionSummary
i5005677
rs10575200705.245,038,342
rs1378528415.245,064,493
rs1378528425.245,000,334
rs1378528435.245,068,563
rs2107732045,038,379
rs7558007345.245,038,277
rs7655481015.245,064,528
rs7970446235.245,000,368
rs8860411575.245,063,927

The CCM2 gene provides instructions for making a protein called malcavernin, which strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. Dozens of mutations in the CCM2 gene have been identified in families with cerebral cavernous malformation, which can cause health problems such as headaches, seizures, and bleeding in the brain (cerebral hemorrhage) in some people.GHR

Mutations in the CCM2 gene are involved in approximately 15 percent of all familial cerebral cavernous malformation cases.GHR