Mutation Details for c.2764_2765insAG
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cDNA Name
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c.2764_2765insAG
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Protein Name
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p.Val922GlufsX2
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2896insAG
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries D1152H on the other chromosome. This insertion leads to a stop codon at the next residue (codon 923).
It does not modifiy any restriction site.
This frameshift mutation was also found by Bienvenu T, Bousquet S, Kaplan JC, Beldjord C (March 21, (NL#69)) by DGGE and direct sequencing. This mutation 2894 Ins AG is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. It was found in a CF adult male patient, currently 20 years of age. The patient presents a classical form of CF. The patient has [delta]F508 on the other chromosome.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
and Bienvenu et al.
1997-02-12
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Institute
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Institut de Biologie Montpellier
Laboratoire de Biochimie et Génétique Moléculaire
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Submitted Phenotype Details
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The CBAVD 34y male patient carries D1152H on the other allele.(de Meeus 1998)
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Reference
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Claustres et al. (NL#69); Bienvenu et al. (NL#69)
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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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