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.

11 entries on 1 page. Showing entries 1 - 11.
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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.(476G>A) r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(476G>A) r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 5 c.(476G>A) r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 5 c.(476G>A) r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 5 c.476G>A r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T 688G>A - VCP_000008 not in 384 control chromosomes PubMed: Haubenberger 2005, PubMed: van der Zee 2009, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.476G>A r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 not in 314 control chromosomes PubMed: van der Zee 2009, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.476G>A r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 not in 314 control chromosomes PubMed: van der Zee 2009, OMIM:var0007 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.476G>A r.(?) p.(Arg159His) - likely pathogenic g.35065348C>T g.35065351C>T VCP(NM_007126.3):c.476G>A (p.R159H) - VCP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.476G>A r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T VCP(NM_007126.3):c.476G>A (p.R159H) - VCP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 5 c.476G>A r.(?) p.(Arg159His) - pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.476G>A r.(?) p.(Arg159His) - likely pathogenic g.35065348C>T g.35065351C>T - - VCP_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
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