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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown yes - - 0 - Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/+ 3 c.(277C>T) r.(?) p.(Arg93Cys) - pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 Point mutation in coding region predicting an amino acid substitution - - - Unknown no - - 0 - Marc Cruts
+/. 3 c.277C>T r.(?) p.(Arg93Cys) - pathogenic (dominant) g.35067913G>A g.35067916G>A - - VCP_000027 - PubMed: Evilä 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.277C>T r.(?) p.(Arg93Cys) ACMG likely pathogenic g.35067913G>A g.35067916G>A - - VCP_000027 ACMG grading: PS3,PS4,PM2,PP3; age at diagnosis: 35y; Cali et al. 1991. J 226: 7779; Grupta et al. 2007. Metabolism 56: 1248; Smalley et al. 2015. Genet 38: 30 - - - Germline - - - 0 - Andreas Laner
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