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 10

OMIM:605316
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process


Mutations

Gene SymbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.268G>A
A.A. Changep.Ala90Thr
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.

Polymorphisms

Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA ChangeIVS4+74A>T
A.A. Change
Exon/Intronintron 4
Variation Typesubstitution
Cases 80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT22 (27.5%)
AT37 (46.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.331G>A
A.A. Changep.G111S
Exon/Intronexon 5
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA15 (18.75%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.453G>A
A.A. ChangepV151V
Exon/Intronexon 6
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA1 (1.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.757A>G
A.A. Changep.I253V
Exon/Intronexon 8
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG1 (1.25%)
AG5 (6.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1269C>T
A.A. Changep.I423I
Exon/Intronexon 12
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
TT2 (2.5%)
CT1 (1.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1341G>A
A.A. Changep.Q447Q
Exon/Intronexon 12
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA57 (71.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1367G>A
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA6 (7.5%)
GA61 (76.25%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1410G>A
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA63 (78.75%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1455G>A
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA63 (78.75%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1460G>A
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA63 (78.75%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1571A>G
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG3 (3.75%)
AG24 ( 30%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.
Gene symbolTMPRSS3
Reference transcriptNM_024022.2
DNA Changec.1611G>A
A.A. Change
Exon/Intronexon 13
Variation Typesubstitution
Cases80 Moroccan families with nonsyndromic hearing impairment
Controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GA63 (78.75%)
ReferenceCharif M, Abidi O, Boulouiz R, Nahili H, Rouba H, Kandil M, Delprat B, Lenaers G, Barakat A.Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Biochem Biophys Res Commun. 2012 Mar 23;419(4):643-7.