4957A MANUAL PDF

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Sazuru Therefore, it has been classified as a Variant of Uncertain Significance. The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. Learn more — opens in a new window or tab. Please review our privacy policy. Clinical assertions Summary evidence Supporting observations Help.

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Report item — opens in a new window or tab. For additional information, see the Global Shipping Programme terms and conditions — opens in a new window or tab. Mouse over to zoom — Click to enlarge. Please enter a valid postcode. ClinVar Relating variation to medicine. Click here to see the new Variation Report design! No additional import charges on delivery. For additional information, see the Global Shipping Programme terms and conditions — opens in a new window or tab This amount includes applicable customs duties, taxes, brokerage and other fees.

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Hereditary cancer-predisposing syndrome [ MedGen ]. Learn more — opens in new window or tab. This variant has not been reported in the literature in individuals with BRCA2-related disease.

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ClinVar contains an entry for manuall variant Variation ID: Will usually dispatch within 3 working days of receiving cleared payment — opens in a new window or tab. Redeem your points Conditions for uk nectar points — opens in a new window or tab. Find out more about your rights as a buyer — opens in a new window or tab and exceptions — opens in a new window or tab.

HP Computer Museum Insufficient or conflicting evidence. Lines of evidence used in supp… Full description Germline Lines of evidence used in support of classification: Interpretation Help Clinical significance: In summary, the available evidence is currently insufficient to determine the role of this variant in disease.

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