OMIM: 613811Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SEPSECS |
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| Dna Change: | c.715G>A |
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| Protein Change: | p.Ala239Thr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_016955.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | Jews | NA | 2 patients/ 2 unrelated families | NA | Agamy O et al., 2010Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS, . Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.. Am. J. Hum. Genet.. 2010; 87(4):538-44 |
References
Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS, Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.Am. J. Hum. Genet.. 2010; 87(4):538-44