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Last update

21/6/2017

Gene: transmembrane channel-like 1; TMC1

Gene Symbol: TMC1
OMIM: 606706
Chromosome location: 9q21.13

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

Deafness, autosomal recessive 7 || c.100C>T

Phenotype:	Deafness, autosomal recessive 7
Dna Change:	c.100C>T
Protein Change:	p.Arg34X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 7
Transcript:	NM_138691.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	2 patients/54 patients	between 1075 and 1900 years	Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11
Lebanon	NA	NA	1 patient	NA	Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11
Tunisia	NA	NA	4 patients	between 1075 and 1900 years	Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11
Turkey	NA	NA	1 patient	NA	Ben Saïd M et al., 2010Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, . High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.. Genet Test Mol Biomarkers. 2010; 14(3):307-11

References

Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S, High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.Genet Test Mol Biomarkers. 2010; 14(3):307-11

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: transmembrane channel-like 1; TMC1

References