英: deletion mutant

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1. 巣状皮膚低形成（ゴルツ症候群）focal dermal hypoplasia goltz syndrome [show details]
…identification of a germline heterozygous PORCN pathogenic variant or deletion in a female or somatic mosaic hemizygous PORCN pathogenic variant in a male . Genetics experts recommend sequence analysis of …
2. リ・フラウメニ症候群li fraumeni syndrome [show details]
…pathogenic variants in TP53, including sequence analysis of all or part of the gene, and techniques for detecting gene deletion or duplication. Over 300 distinct germline pathogenic variants of TP53 have …
3. 外胚葉異形成症ectodermal dysplasias [show details]
… an X-linked pathogenic variant in IKBKG . Incontinentia pigmenti (IP, MIM #308300) is allelic to X-linked HED-ID and is caused by a different pathogenic variant, usually a deletion, in IKBKG. IP is typically …
4. HFE遺伝子とそれ以外のヘモクロマトーシスの原因遺伝子hfe and other hemochromatosis genes [show details]
…homozygosity for the C282Y variant (C282Y/C282Y). The H63D variant contributes to a minority of cases in compound heterozygosity with C282Y (C282Y/H63D). Other point mutations or HFE gene deletion are less common …
5. 血友病Aおよび血友病Bの遺伝学的特徴genetics of hemophilia a and b [show details]
…homologous vitamin K-dependent proteins. Variants in F9 are highly heterogeneous . They include deletions, duplications, insertions, splice-site variants, missense variants (which cause an amino acid substitution) …