TSPYL1, TSPY like 1, 7259

N. diseases: 42; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140756663
rs140756663
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
dbSNP: rs140756663
rs140756663
Entrez Id: 7259;29940
Gene Symbol: TSPYL1;DSE
TSPYL1;DSE
CUI: C0004509
Disease:
Azoospermia 		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
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
dbSNP: rs370116569
rs370116569
Entrez Id: 7259;29940
Gene Symbol: TSPYL1;DSE
TSPYL1;DSE
CUI: C0004509
Disease:
Azoospermia 		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
dbSNP: rs201438485
rs201438485
Entrez Id: 7259;29940
Gene Symbol: TSPYL1;DSE
TSPYL1;DSE
CUI: C0004509
Disease:
Azoospermia 		0.010 GeneticVariation BEFREE A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function. 19463995 2009
dbSNP: rs201438485
rs201438485
Entrez Id: 7259;29940
Gene Symbol: TSPYL1;DSE
TSPYL1;DSE
CUI: C0432470
Disease:
46, XY female 		0.010 GeneticVariation BEFREE A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function. 19463995 2009