Full data view for gene VCP

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_007126.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - United States white (Northern European Ancestry) 69y - - - 3 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - United States white (Northern European Ancestry) 63y - - - 7 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - No dementia - - United States white (Northern European Ancestry) - - - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - United States white (Northern European Ancestry) - - - - 4 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - United States white 64y04m - - - 5 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - No dementia - - United States white - - - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - United States white (Scottish Ancestry) - - - - 1 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - - - DNA ? - - IBMPFD1 - - - - - Italy white 56y - - - 2 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - IBMPFD1 - - - - - France; Spain white - - - - 2 Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - - - DNA ? - - LGMD - - - - - - Asian - - - - 1 Marc Cruts
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam1 PubMed: Watts 2004, OMIM:var0001 6-generation family, 29 affecteds - - United States Europe - - - - 29 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam3 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States Europe - - - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam7 PubMed: Watts 2004, OMIM:var0001 3-generation family, 10 affecteds - - United States Europe - - - - 10 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 mapped by linkage, haplogroup-A; not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam16 PubMed: Watts 2004, OMIM:var0001 4-generation family, 6 affecteds - - United States Europe - - - - 6 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam4 PubMed: Watts 2004, OMIM:var0001 4-generation family, 12 affecteds - - United States Europe - - - - 12 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam10 PubMed: Watts 2004, OMIM:var0001 5-generation family, 6 affecteds - - United States - - - - - 6 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - - - DNA DHPLC, SEQ - - IBMPFD1 15034582-Fam15 PubMed: Watts 2004, OMIM:var0001 4-generation family, 8 affecteds - - United States - - - - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Viassolo 2008, OMIM:var0001 - - Germline - - - - - DNA SEQ - - IBMPFD1 18341608-Fam1 PubMed: Viassolo 2008 5-generation family, 8 affecteds - - Italy - - - - - 8 Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - - - - Germline - - - - - DNA PCR, SEQ - - IBM ? - - F - United States - - - - - 1 Tom Winder
+/. 5 c.464G>A r.464g>a p.Arg155His Unknown - NA g.35065360C>T g.35065363C>T - - VCP_000001 expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure PubMed: Weihl 2006, OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.464G>A r.(?) p.(Arg155His) Parent #1 - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - NMD Pat19 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
+/. - c.464G>A r.(?) p.(Arg155His) Unknown - pathogenic g.35065360C>T - VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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