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| Mendeliome v1.3381 | SWSAP1 |
Rylee Peters gene: SWSAP1 was added gene: SWSAP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SWSAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SWSAP1 were set to 40991243 Phenotypes for gene: SWSAP1 were set to Primary ovarian insufficiency, MONDO:0005387, SWSAP1-related Review for gene: SWSAP1 was set to RED Added comment: Cohort with severe isolated premature ovarian insufficiency. 1x individual homozygous for a frameshift SWSAP1 variant, c.353del, p.(Gly118AlafsTer2), absent from gnomAD v4. Functional: western-blot indicates reduced stability of the truncated protein; the truncated SWSAP1 variant fails to complement the IH-HR (interhomolog homologous recombination) defect of Swsap1−/− cells (undetected IH-HR activity). Sources: Literature |
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