Mutation Details for c.3873+121T[6_8]
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cDNA Name
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c.3873+121T[6_8]
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4005+121delTT
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Other Details
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This deletion was detected by SSCP analysis and identified by DNA sequencing of the PCR fragment cloned in PCR from TA cloning kit. The deletion was detected in one Slovenian CF chromosome. The investigators are uncertain of the status of 4005+121delTT because it was found in a non-[deltaF508 CF chromosome of a one year old CF patient in which the 3905insT was identified. The other CF chromosome was found to be [delta]F508. The 4005+121delTT was confirmed to be present in the non-[delta]F508 chromosome of the patient's mother.
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Contributors
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Strmecki L,
Vouk K
Komel R
1995-01-05
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Institute
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Medical Faculty
Institute of Biochem.
Ljubljana
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Submitted Phenotype Details
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Reference
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Strmecki et al. (NL#65)
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