TSPYL1, TSPY like 1, 7259

N. diseases: 42; N. variants: 3
Disease: OAT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370116569
rs370116569
Entrez Id: 7259;29940
Gene Symbol: TSPYL1;DSE
TSPYL1;DSE
CUI: C4324573
Disease:
OAT syndrome 		0.010 GeneticVariation BEFREE Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. 22137496 2012