rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.850
CausalMutation
CLINVAR
rs1057518907
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.700
CausalMutation
CLINVAR
rs11554273
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.700
CausalMutation
CLINVAR
rs11554273
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
G
0.700
CausalMutation
CLINVAR
rs121913494
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.700
CausalMutation
CLINVAR
rs137854530
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
G
0.700
CausalMutation
CLINVAR
rs137854533
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.700
CausalMutation
CLINVAR
rs797045203
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.700
CausalMutation
CLINVAR
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
BEFREE
McCune-Albright syndrome (MAS ) is caused by mutations in GNAS (most often R201C or R201H ) leading to constitutive cAMP signaling and multiple endocrine dysfunctions, including morphological and functional thyroid involvement.
18349068
2008
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
BEFREE
McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations-R201H or R201C-in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene.
29104223
2017
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
UNIPROT
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
10571700
1999
rs121913494
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
G
0.700
CausalMutation
CLINVAR
A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.
17493233
2007
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.850
CausalMutation
CLINVAR
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
15126527
2004
rs11554273
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.700
CausalMutation
CLINVAR
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study.
15126527
2004
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
UNIPROT
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
1944469
1991
rs1569032751
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.700
GeneticVariation
CLINVAR
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.
8699958
1996
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
BEFREE
Constructs expressing the MAS mutation (R201H ), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H , F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured.
23288949
2013
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
BEFREE
Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis.
29984378
2018
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
UNIPROT
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
1594625
1992
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
UNIPROT
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
7751320
1995
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.850
CausalMutation
CLINVAR
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
23536913
2013
rs11554273
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
T
0.700
CausalMutation
CLINVAR
Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
23536913
2013
rs1569032751
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
A
0.700
GeneticVariation
CLINVAR
Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.
11029463
2001
rs121913495
×
Entrez Id:
2778
Gene Symbol:
GNAS
GNAS
McCune-Albright Syndrome
0.850
GeneticVariation
BEFREE
Unexpected mosaicism of R201H -GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome .
17101633
2006