Variant: rs1480612338 

    present in Gene: LOC105369759;DHH
    present in Chromosome: 12
    Position on Chromosome: 49090416
    Alleles of this Variant: C/T

rs1480612338 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.

rs1480612338 in LOC105369759;DHH gene and Cryptorchidism PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs1480612338 in LOC105369759;DHH gene and Hypospadias, perineal PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

rs1480612338 in LOC105369759;DHH gene and Micropenis PMID 30298535 2018 In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.