Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Deafness, autosomal recessive 7

OMIM:600974
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process


Mutations

Gene SymbolTMC1
Reference transcriptNM_138691.2
DNA Changec.1939T>C
A.A. Changep.Ser647Pro
Exon/Intronexon 20
Mutation Typesubstitution
ReferenceBrownstein 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.
Gene SymbolTMC1
Reference transcriptNM_138691.2
DNA Changec.1810C>T
A.A. Changep.Arg604X
Exon/Intronexon 20
Mutation Typesubstitution
ReferenceBrownstein 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.