Mutation Details for c.980T>G
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cDNA Name
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c.980T>G
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Protein Name
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p.Leu327Arg
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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L327R
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Other Details
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This mutation is a substitution of T to G at position 1112 in nucleotide sequence and causes the replacement of a leucine by arginine residue in codon 327. This variation was observed by SSCP analysis during screening of CF samples for mutations. We are currently investigating wheter or not this alteration is a mutation or polymorphism.
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Contributors
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Ravnik-Glavac M,
Glavac D,
Dean M
1993-02-07
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Institute
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Department of Health & Human Services
Frederick, MD, USA
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Submitted Phenotype Details
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Reference
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Ravnik-Glavac et al. (NL#53)
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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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