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Paper Details

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
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2023
5' splice donor site, 93 base pairs, DNA variants, Gln1419, Gln1419Valfs, NM, NM_000548, RNA, TSC, TSC2, TSC2 frameshift variant, TSC2 protein, TSC2 variant proteins, TSC2), TSC2):c.4255_4256delCA, blood lymphocytes, c., cultured cells, frameshift variant, frameshift variants, genetic disorders, mRNA, mRNA transcript, non-canonical 5' donor site, pathogenetic DNA variants, patient, proband mRNA, single gene disorders, truncated TSC2, tuberous sclerosis complex
Author NameAffiliation
Peter B CrinoUniversity of Maryland School of Medicine
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Datasets

Release 1.2