Bare lymphocyte Type I

OMIM:604571
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	TAP2
Reference transcript	NM_000544.3
DNA Change	c.817C>T
A.A. Change	p.Arg273Stop
Exon/Intron	exon 5
Mutation Type	substitution
Reference	de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M, et al.Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science. 1994 Jul 8;265(5169):237-41.

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