rs121913396
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121913396
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
G
0.800
CausalMutation
CLINVAR
rs121913396
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121913396
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121913399
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
A
0.700
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs121913399
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
C
0.700
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
A common human skin tumour is caused by activating mutations in beta-catenin.
10192393
1999
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
T
0.800
CausalMutation
CLINVAR
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
Identification of two novel regulated serines in the N terminus of beta-catenin.
12027456
2002
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
A
0.800
CausalMutation
CLINVAR
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
11703283
2001
rs121913400
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
BEFREE
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
19384065
2009
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
G
0.810
CausalMutation
CLINVAR
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
T
0.810
CausalMutation
CLINVAR
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
11703283
2001
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
A common human skin tumour is caused by activating mutations in beta-catenin.
10192393
1999
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
Identification of two novel regulated serines in the N terminus of beta-catenin.
12027456
2002
rs121913403
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121913413
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
11703283
2001
rs121913413
×
Entrez Id:
1499
Gene Symbol:
CTNNB1
CTNNB1
Pilomatrixoma
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013