Variant: rs1565572949

present in Gene: LOC105369759;DHH present in Chromosome: 12 Position on Chromosome: 49090039 Alleles of this Variant: G/-

rs1565572949 in LOC105369759;DHH gene and 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs1565572949 in LOC105369759;DHH gene and Male Pseudohermaphroditism PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs1565572949 in LOC105369759;DHH gene and Primary hypogonadism PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs1565572949 in LOC105369759;DHH gene and Testicular dysgenesis PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.