Gene: CHAT ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75466054
rs75466054
CHAT
0.810 GeneticVariation BEFREE Here, using next generation sequencing, we identified compound heterozygous mutations, namely a large maternally inherited deletion, including exons 4, 5, and 6, and a paternally inherited missense variant (c.914T>C [p.Ile305Thr]) in <i>CHAT</i> in a Chinese patient with a severe phenotype of CMS-EA. 30914958

2019