Gene Symbol: PROP1
OMIM: 601538Chromosome location: 5q35.3
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
Phenotype: |    Pituitary hormone deficiency, combined, 2 |
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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): |
Phenotype: |    Pituitary hormone deficiency, combined, 2 |
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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):