UMOD Mutations in Taiwan Chronic kidney Disease_1
收藏Figshare2022-07-15 更新2026-04-08 收录
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https://figshare.com/articles/dataset/UMOD_Mutations_in_Taiwan_Chronic_kidney_Disease_1/20315697/1
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资源简介：
Exome sequencing was performed in DY4, 5, and 10. A total of 28 variants, including <em>UMOD </em>c.179G>A (p.Gly60Asp), were shared among these three affected individuals after exome sequencing analysis. Bioinformatic analysis showed that only c.179G>A (p.Gly60Asp) was classified as VUS by the ACMG classification and likely pathogenic by the Varsome software. This variant does not exist in the 1000 Genomes, gnomAD, TOPMed, and ClinVar databases. Furthermore, this variant fits the family`s dominant inheritance pattern and is segregated from the phenotype of all family members, indicating this variant may be the disease-causing mutation.
提供机构：
Chuan Kuo, Mei; Hung, Chi-Chih; Hwang, Daw-yang; Yu, Chih-Chuan; Chen, Huan-Da; Chang, Jer-Ming; Yang, I-Hsiao; Tarng, Der-Cherng
创建时间：
2022-07-15
