ABCC7 p.Met82Ile
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PMID: 15371907
[PubMed]
Monaghan KG et al: "Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study."
No.
Sentence
Comment
69
9 Prenatal test Asian Fetal echogenic bowel I148Ta /M82I Not determined Healthy female last evaluated at age 28 months with no signs or symptoms of CF.
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ABCC7 p.Met82Ile 15371907:69:52
status: NEW79 A previously unreported variant of unknown clinical significance, M82I (ATG3ATA), was identified in the other parent.
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ABCC7 p.Met82Ile 15371907:79:66
status: NEW80 M82I was incidentally detected by heteroduplex analysis of exon 3, which was used by the laboratory to screen for known CF mutations.
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ABCC7 p.Met82Ile 15371907:80:0
status: NEW82 It was explained to the couple that M82I was most likely a benign polymorphism because codon 82 is not located in a critical region of the CFTR gene and that the substitution of methionine with isoleucine (both hydrophobic amino acids) in this region of the gene was not likely deleterious (J. Zelienski, personal communication, 2004).
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ABCC7 p.Met82Ile 15371907:82:36
status: NEW85 CF testing was positive for I148T and M82I.
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ABCC7 p.Met82Ile 15371907:85:38
status: NEW113 One fetus was compound heterozygous for I148T and M82I, a previously unreported variant of unknown clinical significance.
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ABCC7 p.Met82Ile 15371907:113:50
status: NEW