Disease: Histiocytosis, Langerhans-Cell ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912525
rs121912525
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C0019621
Disease:
Histiocytosis, Langerhans-Cell 		0.030 GeneticVariation BEFREE Moreover, we demonstrate the pathogenic role of the novel p.L10P allelic variant, which has to be considered a loss-of-function mutation significantly contributing, in compound heterozygosity with p.S616Y, to the LCH type 2 observed in our patient. 26246498 2015
dbSNP: rs121912525
rs121912525
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C0019621
Disease:
Histiocytosis, Langerhans-Cell 		0.030 GeneticVariation BEFREE We have compared this mutant LHR to two other mutant LHRs, LHR(A593P) and LHR(S616Y), identified in a complete and partial LCH patient, respectively. 9626653 1998
dbSNP: rs121912525
rs121912525
Entrez Id: 3973;11036;286749
Gene Symbol: LHCGR;GTF2A1L;STON1-GTF2A1L
LHCGR;GTF2A1L;STON1-GTF2A1L
CUI: C0019621
Disease:
Histiocytosis, Langerhans-Cell 		0.030 GeneticVariation BEFREE We have identified three mutations of the hLHR in a patient with LCH: deletion of exon 8 (delta Exon 8), A872G transition resulting in Asn291Ser substitution in the extracellular domain, and C1847A transversion resulting in Ser616Tyr substitution in the seventh TM helix. 8843415 1996