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| Combined Immunodeficiency v0.179 | UNC119 | Bryony Thompson Marked gene: UNC119 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.179 | UNC119 | Bryony Thompson Gene: unc119 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.179 | UNC119 |
Bryony Thompson gene: UNC119 was added gene: UNC119 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: UNC119 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC119 were set to 22184408 Phenotypes for gene: UNC119 were set to ?Immunodeficiency 13 MIM#615518 Review for gene: UNC119 was set to RED Added comment: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. Sources: Expert list |
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