Mutation Details for c.4220T>C
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cDNA Name
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c.4220T>C
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Protein Name
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p.Met1407Thr
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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M1407T
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Other Details
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The father, who transmitted the anomaly, is Turkish.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2004-01-21
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Institute
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Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France
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Submitted Phenotype Details
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This mutation was identified at the heterozygous state in a fetus with bowel dilation in association with a microcephaly and cerebral atrophy, which led to termination of pregnancy. No other CF mutation was found. We have considered the mutation as possibly CF-causing given the location (NBF2) and nature of the amino acid change, and the conservation of the M1407 residue among species.
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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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