present in Gene: KRIT1
present in Chromosome: 7
Position on Chromosome: 92225770
Alleles of this Variant: GTTT/-
rs1057517753 in
KRIT1 gene and
Cavernous Hemangioma of Brain
PMID 27649701 2017 Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
PMID 22699465 2011 Familial cerebral cavernomas due to a KRIT1 mutation presenting with epilepsy.