ABCC8 p.Gly1316Gln
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PMID: 26246406
[PubMed]
Baier LJ et al: "ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes."
No.
Sentence
Comment
70
The other 6 missense variants (all in ABCC8: K1565E, R1420H, G1316Q, M801I, D691E, and S165L) are novel with mAFs of #0.03.
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ABCC8 p.Gly1316Gln 26246406:70:61
status: NEW77 The ABCC8 G1316Q variant may be a private mutation as it was only detected in 10 individuals who were all from a single non-full-heritage Pima Indian pedigree.
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ABCC8 p.Gly1316Gln 26246406:77:10
status: NEW125 &#b6;Heterozygous individuals with birth weight data were N = 2 and 8 for G1316Q and D691E, respectively; therefore, these substitutions were not analyzed for this trait. other ethnic groups.
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ABCC8 p.Gly1316Gln 26246406:125:74
status: NEW