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Last update

21/6/2017

Gene: transmembrane and coiled-coil domains 1; TMCO1

Gene Symbol: TMCO1
OMIM: 614123
Chromosome location: 1q24.1

Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome || c.223C>T (259C>T)

Phenotype:	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
Dna Change:	c.223C>T (259C>T)
Protein Change:	p.Arg75X (Arg87X)
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 5
Transcript:	NM_001256165.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: transmembrane and coiled-coil domains 1; TMCO1

References