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| Common Variable Immunodeficiency v0.132 | VAV1 | Zornitza Stark Marked gene: VAV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.132 | VAV1 | Zornitza Stark Gene: vav1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.85 | VAV1 |
Bryony Thompson gene: VAV1 was added gene: VAV1 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: VAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAV1 were set to 20638113; 23058036 Phenotypes for gene: VAV1 were set to Common variable immnodeficiency Review for gene: VAV1 was set to RED Added comment: Reduced VAV1 expression has been reported in multiple T-CVID cases, however only one large deletion (exon 2-27) has been reported in a single case in a publication from 2012. The CNV was detected using real-time qPCR, but was not confirmed by an orthogonal method. Sources: Literature |
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