TMC1

Gene name: transmembrane channel-like 1
OMIM ID: 606706
Chromosome location: 9q21.13

Mutations

Disease/Phenotype	Deafness, autosomal recessive 7
Reference transcript	NM_138691.2
DNA Change	c.1810C>T
A.A. Change	p.Arg604X
Exon/Intron	exon 20
Mutation Type	substitution
Reference	Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families. Genome Biol. 2011 Sep 14;12(9):R89.

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Disease/Phenotype	Deafness, autosomal recessive 7
Reference transcript	NM_138691.2
DNA Change	c.1939T>C
A.A. Change	p.Ser647Pro
Exon/Intron	exon 20
Mutation Type	substitution
Reference	Brownstein Z, Friedman LM, Shahin H, Oron-Karni V, Kol N, Abu Rayyan A, Parzefall T, Lev D, Shalev S, Frydman M, Davidov B, Shohat M, Rahile M, Lieberman S, Levy-Lahad E, Lee MK, Shomron N, King MC, Walsh T, Kanaan M, Avraham KB.Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families. Genome Biol. 2011 Sep 14;12(9):R89.

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