present in Gene: ADGRG2;LOC101928415
present in Chromosome: X
Position on Chromosome: 19003070
Alleles of this Variant: CACAG/TCT
rs879255539 in
ADGRG2;LOC101928415 gene and
Congenital bilateral aplasia of vas deferens
PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
rs879255539 in
ADGRG2;LOC101928415 gene and
Infertility
PMID 27476656 2016 We identified three protein-truncating hemizygous mutations, c.1545dupT (p.Glu516Ter), c.2845delT (p.Cys949AlafsTer81), and c.2002_2006delinsAGA (p.Leu668ArgfsTer21), in ADGRG2, encoding the epididymal- and efferent-ducts-specific adhesion G protein-coupled receptor G2, in four subjects, including two related individuals with X-linked transmission of their infertility.
rs879255539 in
ADGRG2;LOC101928415 gene and
Obstructive azoospermia
PMID 27476656 2016 Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.