WebClinVar archives and aggregates information about relationships among variation and human health. WebThe most common form of genetic variation, single nucleotide polymorphisms or SNPs, can affect the way an individual responds to the environment and modify disease risk. Although most of the millions of SNPs have little or no effect on gene regulation and protein activity, there are many circumstances where base changes can have deleterious effects.
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Web0 °F = -17.77778 °C. The temperature T in degrees Celsius (°C) is equal to the temperature T in degrees Fahrenheit (°F) minus 32, times 5/9, that conversion formula: T(°C) = (T(°F) … The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. Homozygous H63D variant can … See more The primary risk associated with the H63D mutation is brain damage, as iron accumulation can cause oxidation within affected cells, ultimately leading to cell death and scarring of the brain tissue. Another potential … See more H63D syndrome is a very rare clinical phenotype based on a homozygous mutation of the HFE gene. This mutation is associated with … See more • "H63D - The Other Mutation" (PDF). Iron Disorders Institute nanograms. 2010. • Nandar W, Connor JR (2011). "HFE Gene Variants Affect Iron in the Brain" See more A 2024 study revealed that the homozygous H63D variant (as well as the heterozygous one) is significantly higher in elite endurance athletes comparing to ethnically-matched … See more corvette factory parts
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WebA molecular modeling study of the p. [Gly43Asp;His63Asp] and p.His63Asp variants versus the wild type was carried out using molecular dynamics (MD) simulation in presence of … WebMar 17, 2024 · H63D – Substitution of aspartic acid (D) for histidine (H) at amino acid 63 (also written p.His63Asp). In the DNA, cytosine (C) is replaced by G at nucleotide 187 (written c.C187G or c.187C>G). To continue reading this article, you must log in with your personal, hospital, or group practice subscription. WebMar 9, 2007 · HFE gene c.187C>G Active Basic Part Properties Name HFE gene.c.187C>G Part Type Component (Describes the core component or analyte measured) Created On 2007-03-09 Construct for LOINC Short Name HFE c.187C>G ... NM_000410.3(HFE):c.187C>G (p.His63Asp) LOINC Terminology Service (API) ... corvette factory ky tornado