OMIM: 262600Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    PROP1 |
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Dna Change: |    c.301_302delAG |
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Protein Change: |    p.Leu102Cysfs*8 |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Frameshift |
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Location: |    exon 2 |
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Transcript: |    NM_006261.4 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Spain | NA | NA | NA | NA | Dusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0): |
Gene/Locus: |    PROP1 |
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Dna Change: |    c.150delA |
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Protein Change: |    p.Arg53Aspfs*112 |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Frameshift |
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Location: |    exon 2 |
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Transcript: |    NM_006261.4 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Spain | NA | NA | NA | NA | Dusatkova P et al., 2015Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, . Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.. Eur. J. Hum. Genet.. 2015; 0(0): |
References
Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J, Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.Eur. J. Hum. Genet.. 2015; 0(0):