All variants in the VCP gene

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.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(464G>A) r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - 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 - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 not in >180 control chromosomes PubMed: Watts 2004, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Viassolo 2008, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - - - - Germline - - - 0 - Tom Winder
+/. 5 c.464G>A r.464g>a p.Arg155His - 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) - - - 0 - Johan den Dunnen
+/. - c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T VCP(NM_007126.3):c.464G>A (p.R155H) - VCP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.464G>A r.(?) p.(Arg155His) - pathogenic g.35065360C>T g.35065363C>T - - VCP_000001 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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