OMIM: 213980Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TMCO1 |
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| Dna Change: | c.223C>T (259C>T) |
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| Protein Change: | p.Arg75X (Arg87X) |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 5 |
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| Transcript: | NM_001256165.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 4 families/ 5 families | NA | Alanay Y et al., 2014Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA, . TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.. Am. J. Med. Genet. A. 2014; 164(2):291-304 |
References
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA, TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.Am. J. Med. Genet. A. 2014; 164(2):291-304