Mutation Details for c.601delG
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cDNA Name
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c.601delG
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Protein Name
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p.Val201CysfsX14
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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733delG
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Other Details
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Name in accordance with the standard nomenclature guidelines(HGVS):
c.601delG or p.Val201CysfsX13
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Contributors
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Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.
2008-01-28
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France
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Submitted Phenotype Details
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This mutation was identified in trans of N1303K in a fetus presenting an hyperechogenic bowel at 23 weeks of pregnancy. It was inherited from the mother, who is from Algeria.
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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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