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

Meckel syndrome, type 3

OMIM:607361
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolTMEM67
Reference transcriptNM_153704.5
DNA Changec.2439G>A
A.A. Changep.A813A
Exon/Intronexon 23
Mutation Typesubstitution
ReferenceKhaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d'Humieres C, Kadhom N, et al.Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation.
Hum Mutat. 2007 May;28(5):523-4.
Gene SymbolTMEM67
Reference transcriptNM_153704.5
DNA Changec.1336G>C
A.A. Changep.D446H
Exon/Intronexon 13
Mutation Typesubstitution
ReferenceKhaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d'Humieres C, Kadhom N, et al.Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation.
Hum Mutat. 2007 May;28(5):523-4.