Mutation Details for c.1209+18A>C
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cDNA Name
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c.1209+18A>C
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Exon or Intron
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intron 9
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Legacy Exon or Intron
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intron 8
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1341+18A->C
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Other Details
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This mutation was found in the 30's base pairs around the donor spice site of exon 8 : 1341 + 18 A->C. This change, located after a repetition of T and A, was found in a patient with CBAVD by DGGE then identified by direct sequencing. It does not alter any restriction site. It has been found in only one chromosome. Future studies on mRNA should be precise if it is a mutation or a variation.(Original note-Claustres et al. 1993) NL# 60
Claustres et al. also reported: 1341+18C/A (C or A at 1341+18) as a polymorphism in 1994 noting this change being found associated with the mutation G1349D. NL# 62
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Contributors
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Claustres M,
Romey M-C,
Desgeorges M
1993-12-17
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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1341+18A>C was identified associated with G1349D in a 26 years old male with CBAVD, who is PS and has no lung disease. He carries R117H-7T on the other allele. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#60)
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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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