Mutation Details for c.1127_1128insA
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cDNA Name
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c.1127_1128insA
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Protein Name
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p.Gln378AlafsX4
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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1259insA
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Other Details
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Found once in an individual who is a compound heterozygote for the 1717-1G->A.
This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA.
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Contributors
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Shrimpton AE,
Swender P
1996-10-09
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Institute
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SUNY Health Science Center,
Syracuse, New York
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Phenotype Information
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CFTR2
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Reference
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Shrimpton & Swender (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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