Mutation Details for c.1951G>C
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cDNA Name
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c.1951G>C
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Protein Name
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p.Asp651His
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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D651H
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Other Details
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Contributors
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Mittre H.,
2002-01-01
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Institute
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Caen, France
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Submitted Phenotype Details
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The mutation was identified in a 29 years old male individual with azoospermia, PS, with no pulmonary disease and normal sweat chloride. He carries deltaF508 on the other allele. (pers. corr. Mittre)
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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