PCCB, propionyl-CoA carboxylase subunit beta, 5096

N. diseases: 57; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621 2004
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. 12559849 2003
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. 12189489 2002
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. 11749052 2001
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation BEFREE Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene. 10353789 1999
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online. 10447268 1999
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. 9683601 1998
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. 8411997 1993
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.810 GeneticVariation UNIPROT An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. 2154743 1990
dbSNP: rs202247822
rs202247822
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		C 0.810 CausalMutation CLINVAR
dbSNP: rs202247823
rs202247823
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		G 0.800 GeneticVariation CLINVAR Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. 28649556 2016
dbSNP: rs879253815
rs879253815
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. 27227689 2016
dbSNP: rs121964961
rs121964961
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		G 0.800 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
dbSNP: rs202247823
rs202247823
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		G 0.800 GeneticVariation CLINVAR Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. 23053474 2013
dbSNP: rs879253815
rs879253815
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 24059531 2013
dbSNP: rs121964959
rs121964959
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Mutation analysis in 54 propionic acidemia patients. 22033733 2012
dbSNP: rs186710233
rs186710233
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		T 0.800 CausalMutation CLINVAR Mutation analysis in 54 propionic acidemia patients. 22033733 2012
dbSNP: rs202247823
rs202247823
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		G 0.800 GeneticVariation CLINVAR Mutation analysis in 54 propionic acidemia patients. 22033733 2012
dbSNP: rs202247823
rs202247823
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		G 0.800 CausalMutation CLINVAR Mutation analysis in 54 propionic acidemia patients. 22033733 2012
dbSNP: rs111033542
rs111033542
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.800 GeneticVariation UNIPROT Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005
dbSNP: rs121964959
rs121964959
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.800 GeneticVariation UNIPROT Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005
dbSNP: rs121964959
rs121964959
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		T 0.800 GeneticVariation CLINVAR Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005
dbSNP: rs121964960
rs121964960
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.800 GeneticVariation UNIPROT Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005
dbSNP: rs121964961
rs121964961
Entrez Id: 5096
Gene Symbol: PCCB
PCCB
CUI: C0268579
Disease:
Propionic acidemia 		0.800 GeneticVariation UNIPROT Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. 15890657 2005