OMIM: 116860Inheritance: Autosomal dominant
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | KRIT1 |
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| Dna Change: | c.987C>A |
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| Protein Change: | p.Cys329X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 11 |
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| Transcript: | NM_194456.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sardinia | 7 patients/ 13 patients (4 families/7 families)) | NA | Cau 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