TM4SF2
Gene name: tetraspanin 7OMIM ID: 300096
Chromosome location: Xp11.4
Mutations
| Disease/Phenotype | Mental retardation, X-linked 58 |
|---|---|
| DNA Change | Breakpoint of X;2 balanced translocation |
| A.A. Change | Frameshift |
| Exon/Intron | |
| Mutation Type | others |
| Reference | Zemni 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