ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.305_306del (p.Lys102fs)

dbSNP: rs2146538658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Koker Lab, University of Erciyes Medical School RCV001374421 SCV001558956 pathogenic Leukocyte adhesion deficiency 1 2019-03-20 no assertion criteria provided clinical testing We showed this variant on four Syrian related patients, all of them presented as LAD-1 and by flow cytometry loss of CD18 (encoded by ITGB2) is shown but even though the mutation is damage causing and certainly complete lack of integrin molecules ; unexpectedly Patient has pus formation and milder clinical phenotype. "Nezihe K. PUS FORMATION WITHIN LAD : AN UNCONVENTIONAL PRESENTATION OF A LAD TYPE I, Poster presented at ESID 2019 Annual Meeting, no:625 18-21 September 2019, Brussels"

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