rs121913495
|
|
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 |
rs121913495
|
|
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 |
rs121913495
|
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
|
10571700 |
1999 |
rs121913495
|
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene.
|
7751320 |
1995 |
rs121913495
|
|
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
|
|
McCune-Albright Syndrome
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.
|
1944469 |
1991 |
rs121913495
|
|
McCune-Albright Syndrome
|
T |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057518907
|
|
McCune-Albright Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs11554273
|
|
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 |
rs11554273
|
|
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 |
rs11554273
|
|
McCune-Albright Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs11554273
|
|
McCune-Albright Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913494
|
|
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 |
rs121913494
|
|
McCune-Albright Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs137854530
|
|
McCune-Albright Syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs137854533
|
|
McCune-Albright Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1569032751
|
|
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 |
rs1569032751
|
|
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 |
rs797045203
|
|
McCune-Albright Syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|