Mutation Details for c.1247A>G
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cDNA Name
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c.1247A>G
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Protein Name
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p.Asn416Ser
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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N416S
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Other Details
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The mutation was detected by DGGE and DHPLC and identified by direct sequencing.
We have seen it only once, in over 3000 chromosomes analysed by DGGE.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-06
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova,Italy
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Submitted Phenotype Details
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The male patient (30y) was found during our screening program of relatives carriers.
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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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