Description
One of the most common pathogenic PMM2 variants reported among European individuals with CDG-1a (Kjaergaard et al., 2001), but has only been identified in the compound heterozygous state and is predicted to be homozygous lethal (Freeze and Westpahl, 2001); Published functional studies demonstrate a damaging effect with reduced enzyme stability and catalytic activity below detection limits (Vega et al., 2011); This variant is associated with the following publications: (PMID: 25192236, 20981092, 31902100, 28373276, 28940310, 22975760, 10700701, 25333069, 21228398, 11530212, 9140401, 19357119, 11517108, 11589167, 21541725, 27053713, 28139241, 26488408, 23988505, 25108116, 26014514, 16376131, 18629883, 19165618, 28425223, 28566178, 28820871, 30609409, 30487145, 30991241, 31474318, 31391289, 31628766, 31981409, 31980526, 32595772, 32581362, 32064623, 31589614, 33163565, 32874916, 31736265, 33643843, 33204593, 33413482)
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |