omia.variant:284 - OMIA - Online Mendelian Inheritance in Animals

omia.variant:284

Genomic description: NC_006600.3:g.31631772C>A

Coding DNA description: XM_540538.2:c.2893G>T

Protein description: XP_540538.1:p.(E965*)

Gene: RAG1

Phenes where this variant occurs:

OMIA:001574-9615: Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive in Canis lupus familiaris (dog)

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