Mutation Details for c.1766+73T>G
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cDNA Name
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c.1766+73T>G
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+73T->G
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Other Details
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This mutation was detected by chemical mismatch cleavage analysis and sequencing. The sequence change creates a possible splice donor. This sequence alteration was detected in a pancreatic sufficient cystic fibrosis patient. The mutation on the patient's second chromosome is unknown.
The mutation can be detected using the following ASO's: normal 5' ATCATAGATTGCATTTTA 3', mutant 5' ATCATAGAGTGCATTTTA 3' with a final wash at 41 degrees celsius in 40 mM NaHPO4, 1mM EDTA, 0.5% SDS for 15 minutes. 1898+73G->T was not found on on 40 non-[delta]F508 CF chromosomes, nor on 14 [delta]F508 CF chromosomes nor on 27 normal chromosomes.
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Contributors
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Smit L,
Strong T,
Iannuzzi M,
Collins F,
Tsui LC
1991-08-08
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Institute
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Howard Hughes Medical Institute
Ann Arbor, MI, USA
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Submitted Phenotype Details
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The mutation was identified in a PS patient. (pers. corr. Strong)
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Reference
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Smit et al. (NL#37)
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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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