Mutation Details for c.1684G>A
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cDNA Name
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c.1684G>A
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Protein Name
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p.Val562Ile
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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V562I
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Other Details
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V562I was detected by DGGE and direct sequencing. The patient was born in Morocco and is homozygous for the mutation and reported to have severe CF with pancreatic insufficiency.
The G to A change at 1816 was previously reported to the database as a polymorphism (1816G/A) by Fanen et al. in 1992
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Contributors
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Feldmann D,
Balloul H,
Magnier C,
Chauve C,
Plouvier E,
Aymard P
1995-10-04
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Institute
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Hopital D'Enfants Armand-Trousseau
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Submitted Phenotype Details
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Reference
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Feldmann et al (NL#67)
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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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