Variant: rs753345594

present in Gene: MRPS22 present in Chromosome: 3 Position on Chromosome: 139350279 Alleles of this Variant: G/A;T

rs753345594 in MRPS22 gene and 46, XX Gonadal Sex Reversal PMID 29566152 2018 Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

rs753345594 in MRPS22 gene and Pure Gonadal Dysgenesis, 46, XX PMID 29566152 2018 Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.