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ClinVar contains an entry for this variant Variation ID: International postage paid to Pitney Bowes Inc. Add to Watch list Watching Watch list is full. Seller information test-equip No additional import charges on delivery. Please enter up to 7 characters for the postcode. Hereditary cancer-predisposing syndrome [ MedGen ].
Postage cost can’t be calculated. Add to Watch list. The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function.
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HP A User’s Manual
Powered by eBay Turbo Lister. Skip to main content. See all condition definitions – opens in a new window or tab This item may be a floor model or an item that has been returned to the seller after a period of use. Learn more – opens in new window or tab. This HGVS expression did not pass validation.
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The seller hasn’t specified a postage method to United States. The item may have some signs of cosmetic wear, but is fully operational and functions as intended. This variant is not present in population databases ExAC no frequency. An item that has been previously used. Dec 6, Number of submission s: Sign in for checkout Check out as guest. The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine.
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This sequence change replaces … Full description Germline This sequence change replaces threonine with alanine at codon of the BRCA2 protein p.
Uncertain significance Last evaluated: Learn More – opens in a new window or tab Any international postage and import charges are paid in part to Pitney Bowes Inc. Help Review status: For additional information, see the Global Shipping Programme terms and conditions – opens in a new window or tab. Click here to see the new Variation Report design! Interpretation Help Clinical significance: 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. This sequence change replaces threonine with alanine at codon of the BRCA2 protein p.
NM_(BRCA2):cA>G () Simple – Variation Report – ClinVar – NCBI
Clinical assertions Summary evidence Supporting observations Help. Add to basket. This item will be sent through the Global Shipping Programme and includes international tracking. Therefore, it has been classified as a Variant of Uncertain Significance.
In summary, the available evidence is currently insufficient to determine the role of this variant in disease.