ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 12325076 2002
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		0.800 GeneticVariation UNIPROT A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1846331
Disease:
Juvenile-onset dystonia 		A 0.800 CausalMutation CLINVAR A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
dbSNP: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.800 CausalMutation CLINVAR
dbSNP: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875331
rs281875331
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		G 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		C 0.800 CausalMutation CLINVAR
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875332
rs281875332
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875333
rs281875333
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.800 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs281875334
rs281875334
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		0.800 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs281875334
rs281875334
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540 2016
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316 2015
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 23649928 2013
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783 2012
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 27868373 2017
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C1855722
Disease:
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 23756437 2014
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of a second case of 7p22.1 microduplication. 22495914 2012
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 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
dbSNP: rs104894003
rs104894003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. 25156961 2015