Disease: Primrose syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795382
rs1064795382
Entrez Id: 26137
Gene Symbol: ZBTB20
ZBTB20
CUI: C0796121
Disease:
Primrose syndrome 		0.010 GeneticVariation BEFREE Both Patients 1 and 2 were found to carry heterozygous likely pathogenic missense variants, detected in the last coding exon of ZBTB20 (c.1822T>C, p.Cys608Arg, de novo, and c.1873A>G, p.Met625Val, respectively), consistent with PRIMS. 31321892 2019