Gene: SH3TC2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956

2009
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR Epidemiology of peripheral neuropathy. 9120441

1997