TMEM67
Gene name: transmembrane protein 67OMIM ID: 609884
Chromosome location: 8q22.1
Mutations
| Disease/Phenotype | Meckel syndrome, type 3 |
|---|---|
| Reference transcript | NM_153704.5 |
| DNA Change | c.1336G>C |
| A.A. Change | p.D446H |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Khaddour 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. |
| Disease/Phenotype | Meckel syndrome, type 3 |
|---|---|
| Reference transcript | NM_153704.5 |
| DNA Change | c.2439G>A |
| A.A. Change | p.A813A |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Khaddour 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. |