|
rs551618643
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
|
27018247 |
2016 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs551618643
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
|
24335034 |
2013 |
|
rs551618643
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
A new structural model of the acid-labile subunit: pathogenetic mechanisms of short stature-causing mutations.
|
22991227 |
2012 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid-labile subunit (ALS) deficiency.
|
21396577 |
2011 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid-labile subunit (ALS) deficiency.
|
21396577 |
2011 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid-labile subunit deficiency and growth failure: description of two novel cases.
|
20389102 |
2010 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Acid-labile subunit deficiency and growth failure: description of two novel cases.
|
20389102 |
2010 |
|
rs551618643
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
|
20591980 |
2010 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
|
19129715 |
2009 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
|
19129715 |
2009 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
|
18303074 |
2008 |
|
rs551618643
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
|
18303074 |
2008 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.
|
18303074 |
2008 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
|
17726072 |
2007 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
|
17726072 |
2007 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.
|
16507628 |
2006 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.
|
16507628 |
2006 |
|
rs121909247
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
|
14762184 |
2004 |
|
rs551618643
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
|
14762184 |
2004 |
|
rs121909247
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs766004600
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs774634302
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |
|
rs776840046
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1).
|
23488611 |
2013 |