rs1554329552
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
25156961
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
23756437
2014
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
27868373
2017
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
16685646
2006
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
10411937
1999
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
25156961
2015
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Clinical and molecular characterization of a second case of 7p22.1 microduplication.
22495914
2012
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
23649928
2013
rs769182426
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
27240540
2016
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Clinical and molecular characterization of a second case of 7p22.1 microduplication.
22495914
2012
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
27868373
2017
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
25052316
2015
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
16685646
2006
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.
10411937
1999
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
27240540
2016
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
25156961
2015
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
23756437
2014
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
22366783
2012
rs797044950
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
23649928
2013
rs104894003
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dystonia
0.010
GeneticVariation
BEFREE
ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood.
29788902
2018
rs104894003
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Dystonia Disorders
0.010
GeneticVariation
BEFREE
ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood.
29788902
2018
rs2098226
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Electrocardiography
A
0.700
GeneticVariation
GWASCAT
Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study).
29622589
2018
rs2966450
×
Entrez Id:
60
Gene Symbol:
ACTB
ACTB
Finding of Mean Corpuscular Hemoglobin
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019