Gene: LHX3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142400016
rs142400016
LHX3
0.010 GeneticVariation BEFREE The p.R73C PROP1 mutation was the most frequent mutation in CPHD; this should be the first one to screen in this population. 25557026

2015
dbSNP: rs777331392
rs777331392
LHX3
0.010 GeneticVariation BEFREE These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects. 22145475

2011