OMIM: 265120Inheritance: Autosomal recessive
Classification: Certain conditions originating in the perinatal period
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | SFTPB |
|---|
| Dna Change: | g.1549C>GAA (121ins2) |
|---|
| Protein Change: | |
|---|
| Mutation Type: | Insertion |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 4 |
|---|
| Transcript: | NM_000542.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | NA | 1 family | NA | Tredano M et al., 2006Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M, . Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.. Am. J. Med. Genet. A. 2006; 140(1):62-9 |
References
Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M, Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.Am. J. Med. Genet. A. 2006; 140(1):62-9