Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TM4SF2

Gene name: tetraspanin 7
OMIM ID: 300096
Chromosome location: Xp11.4

Mutations

Disease/PhenotypeMental retardation, X-linked 58
DNA ChangeBreakpoint of X;2 balanced translocation
A.A. ChangeFrameshift
Exon/Intron
Mutation Typeothers
ReferenceZemni R, Bienvenu T, Vinet MC, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J.A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nat Genet. 2000 Feb;24(2):167-70.


  Variant not named according to HGVS recommendations