SH3TC2

Gene name: SH3 domain and tetratricopeptide repeats 2
OMIM ID: 608206
Chromosome location: 5q32

Mutations

Disease/Phenotype	Charcot-Marie-Tooth Disease Type 4C
DNA Change	IVS10-1G>A
A.A. Change	Exon skipping
Exon/Intron	intron 10
Mutation Type	substitution
Reference	Azzedine H, Ravis? N, Verny C, Gabr?els-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology. 2006 Aug 22;67(4):602-6.

---

  Variant not named according to HGVS recommendations