Mutation Details for c.3119T>G
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3119T>G
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Protein Name
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p.Leu1040Arg
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Exon or Intron
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Other Details
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Mutation identified by sequencing of affected child anf the parents . The father is a carrier of DeltaF508 and the mother carrier of the novel mutation p.Leu1040Arg
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Contributors and Institutes
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| Dr Renu Saxena / Dr Sudha Kohli/ Dr I C Verma | - | Senior Consultant, Center of medical Genetics, Sir Ganga ram Hospital, New Delhi - 110060 |
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Submitted Phenotype Details
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Child from north India with cystic fibrosis found compound heterozygous for deltaF508 and p.Leu1040Arg-
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Reference
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not decided
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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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