Mutation Details for c.489+2T>C
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cDNA Name
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c.489+2T>C
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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621+2T->C
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Other Details
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The above mutation was detected by SSCP and identified by direct DNA sequencing. 621+2T->C was found in a Pakistani CF patient from the North-West of England; the patient is homozygous for this mutation from a consanguineous partnership; the mutation was found only once (although in homozygous form) in 20 Pakistani CF chromosomes.
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Contributors
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Schwarz M,
Malone G,
Hawworth A
1995-07-06
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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2 patients:
-one carrying DelF508 on the other allele, female, born in October 1997
-one homozygous.
(pers. corr. Schwarz)
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Reference
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Schwarz et al. (NL#66)
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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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