ABCC7 p.Leu24Phe
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PMID: 25910067
[PubMed]
Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."
No.
Sentence
Comment
267
The [L24F;296+2T>G] (c.
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ABCC7 p.Leu24Phe 25910067:267:5
status: NEW362 Allele legacy name Allele HGVS name Clinical classification CFTR2 M1V c.1A>G CF-PI CF-causing p.Met1Val P5L c.14C>T CF-PS,CFTR-RD nd p.Pro5Leu ex2,3del c.54-5940_273+10250del21080 CF-PI CF-causing ex2del c.54-1161_164+1603del2875 CF-PI nd W19X(TAG) c.56G>A CF-PI nd p.Trp19* [L24F;296+2T>G] c.
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ABCC7 p.Leu24Phe 25910067:362:276
status: NEW363 [72G>C;164+2T>G] uncertain: CF-PI and/or CF-PS L24F nd; 296+2T>G nd R31C c.91C>T CFTR-RD non CF-causing p.Arg31Cys S42F c.125C>T uncertain: found only with an unknown allele in trans nd p.Ser42Phe E56G c.167G>A CBAVD nd p.Glu56Lys [R74W;V201M;D1270N] c.
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ABCC7 p.Leu24Phe 25910067:363:47
status: NEW