rs80338925, SH3TC2

N. diseases: 2
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.810 GeneticVariation BEFREE A comprehensive multigene next-generation sequencing panel for CMT revealed the homozygous pathogenic missense variant c.1969G > A (p.E657K) in SH3TC2 gene, confirming CMT4C diagnosis. 30658898 2019
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.810 GeneticVariation UNIPROT Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644 2003
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
0.810 CausalMutation CLINVAR