Mutation Details for c.3169A>G
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cDNA Name
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c.3169A>G
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Protein Name
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p.Thr1057Ala
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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T1057A
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Other Details
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T1057A was found in a fetus.
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Contributors
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Ghanem N,
Girodon E,
Flori J,
Goossens M
1996-03-22
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Institute
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Hopital Henri Mondor,
Creteil, France
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Submitted Phenotype Details
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T1057A was found in a 9 year old male also carrying N1303K on the other allele; genetic counselling during pregnancy, child not affected, normal IRT->T1057A considered as a polymorphism. (pers. corr. Girodon)
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Reference
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Ghanem et al. (NL#68)
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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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