TMEM67


Transmembrane protein 67

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
MKS

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
INV15+1G>A splice site mutation NM_153704 Pakistani 16415887
INV8-2A>G splice site mutation NM_153704 Pakistani 16415887
IVS1-2delA skips exon 2 G75fsX89 European 17377820
c. T1413-1G>C splice site mutation NM_153704.5 French 20232449
c.1046T>C L349S BX648768.1 French 17397051
c.1065+1delG splice site mutation BX648768.1 Palestinian 17397051
c.1127A>C Q376P NM_153704 Pakistani 16415887
c.1319G>A R440Q European 17377820, 19466712, 17397051
c.1336G>C D446H BX648768.1 Moroccan 17397051
c.1351C>T R451X European 17377820
c.1538A>G Y513C NM_153704.5 European 19466712
c.1538_1539delAT Y513X NM_153704.5 Senegalese 20232449
c.1575+1G>A potential missplicing BX648768.1 Pakistani 17397051
c.161A>G Y54C NM_153704.5 European 19466712
c.1675-?_2241+?del T559_Q747del BX648768.1 Ivory Coast 17397051
c.1843T>C C615R NM_153704.5 European 19466712
c.2002T>C W668R NM_153704.5 French 20232449
c.2301delT D768IfsX5 NM_153704.5 French 20232449
c.2357G>A G786E NM_153704.5 French 20232449
c.2439G>A potential missplicing A813A BX648768.1 Moroccan 17397051
c.2528A>G Y843C NM_153704.5 Italian 20232449
c.2542G>T E848X NM_153704.5 French 20232449
c.2557A>T K853X BX648768.1 French 17397051
c.2561dupA N854KfsX5 NM_153704.5 American 20232449
c.2689_2690insTA L897IfsX64 NM_153704.5 French 20232449
c.2897T>C L966P European 17377820, 19466712
c.383_384delAC H128fsX140 NM_153704 Omani 16415887
c.387T>A C129X NM_153704.5 Italian 20232449
c.579delA T193fsX221 European 17377820
c.622A>T R208X European 17377820, 17397051
c.647delA E216fsX221 NM_153704 Pakistani 16415887
c.651+2G>T potential missplicing BX648768.1 French 17397051
c.734C>T S245F NM_153704.5 European 19466712
c.755T>C M252T European 17377820, 19466712, 17397051
c.870-2A>G potential missplicing BX648768.1 Pakistani 17397051
c.888G>T W296C NM_153704.5 European 19466712