Gene: KRIT1, ankyrin repeat containing; KRIT1


Gene Symbol: KRIT1
OMIM: 604214
Chromosome location: 7q21.2

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Cerebral cavernous malformations-1 || c.987C>A

Phenotype:    Cerebral cavernous malformations-1
Dna Change:    c.987C>A
Protein Change:    p.Cys329X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 11
Transcript:    NM_194456.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNASardinia7 patients/ 13 patients (4 families/7 families))NACau M et al., 2009Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA, . C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.. Eur J Med Genet. 2009; 52(5):344-8

References

Cau M, Loi M, Melis M, Congiu R, Loi A, Meloni C, Serrenti M, Addis M, Melis MA, C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.Eur J Med Genet. 2009; 52(5):344-8