|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
|
15817905 |
2005 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
|
12624854 |
2003 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
|
11450852 |
2001 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
|
11600516 |
2001 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
|
9727013 |
1998 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Conditional activation defect of a human Gsalpha mutant.
|
9159128 |
1997 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
|
8702665 |
1996 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
|
7523385 |
1994 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
|
8388883 |
1993 |
|
rs137854531
|
|
Pseudohypoparathyroidism, Type Ia
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
|
25802881 |
2015 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
|
15817905 |
2005 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
|
12624854 |
2003 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
|
11600516 |
2001 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
|
11450852 |
2001 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
|
9727013 |
1998 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Conditional activation defect of a human Gsalpha mutant.
|
9159128 |
1997 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.
|
8702665 |
1996 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
|
7523385 |
1994 |
|
rs137854532
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.
|
8388883 |
1993 |
|
rs137854534
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
|
15817905 |
2005 |
|
rs137854534
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
|
12624854 |
2003 |
|
rs137854534
|
|
Pseudohypoparathyroidism, Type Ia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
|
11600516 |
2001 |