Skip to main content

Table 2 Genetic variants in AMH, AMHR2, INSL3, and RXFP2

From: Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports

Gene symbol

Case 1

Case 2

Mutation type

AMH

g.365G>T

 

Missense (Ser49Ile)

g.1357G>A

 

g.1416G>A

 

AMHR2

g.5096C>T

INSL3

g.4983G>A

g.4983G>A

Intronic

g.4727C>T

 

RXFP2

g.21848A>T

g.21848A>T

Intronic

g.25883T>C

g.25883T>C

Intronic

g.26523_26524insA

g.26523_26524insA

Intronic

g.35339A>G

g.35339A>G

Intronic

g.42015_42016insC

g.42015_42016insC

Intronic

g.42610C>T

g.42610C>T

Intronic

g.46869A>G

g.46869A>G

Silent (c.963A>G)

g.57973T>C

g.57973T>C

Intronic

g.63040A>G

g.63040A>G

Intronic