RGD:40903630 Rat Genome Database

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Variant: RGD:40903630 -  Homo sapiens

RGD ID: 40903630
RS ID: rs1828721782
ClinVar ID: CV977365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VCP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 35,061,584
GRCh38 9 35,061,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354927.2:c.1049A>G
NM_001354928.2:c.1049A>G
NM_007126.5:c.1184A>G
LRG_657:g.16156A>G
More... 		12/23/2020 missense variant pathogenic

Variant Details
Variant Transcripts
Gene Symbol:VCP
Accession:NM_001354927
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDELQLFRGDTVLLKGKKRREAVCIVLSDDTCSDEKIRMNRVVRNNLRVRLGDVISIQPCPDVKYGKRIHVLPIDDTVEG
ITGNLFEVYLKPYFLEAYRPIRKGDIFLVRGGMRAVEFKVVETDPSPYCIVAPDTVIHCEGEPIKREDEEESLNEVGYDD
IGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRGILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESN
LRKAFEEAEKNAPAIIFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRFGRFDR
EVDIGIPDATGRLEILQIHTKNMKLADDVGLEQVANETHGHVGADLAALCSEAALQAIRKKMDLIDLEDETIDAEVMNSL
AVTMDDFRWALSQSNPSALRETVVEVPQVTWEDIGGLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKT
LLAKAIANECQANFISIKGPELLTMWFGESEANVREIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRVINQIL
TEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLDQLIYIPLPDEKSRVAILKANLRKSPVAKDVDLEFLAKMTNGFSGA
DLTEICQRACKLAIRESIESEIRRERERQTNPSAMEVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTLQQS
RGFGSFRFPSGNQGGAGPSQGSGGGTGGSVYTEDNDDDLYG*

Gene Symbol:VCP
Accession:NM_001354928
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDELQLFRGDTVLLKGKKRREAVCIVLSDDTCSDEKIRMNRVVRNNLRVRLGDVISIQPCPDVKYGKRIHVLPIDDTVEG
ITGNLFEVYLKPYFLEAYRPIRKGDIFLVRGGMRAVEFKVVETDPSPYCIVAPDTVIHCEGEPIKREDEEESLNEVGYDD
IGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRGILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESN
LRKAFEEAEKNAPAIIFIDELDAIAPKREKTHGEVERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRFGRFDR
EVDIGIPDATGRLEILQIHTKNMKLADDVGLEQVANETHGHVGADLAALCSEAALQAIRKKMDLIDLEDETIDAEVMNSL
AVTMDDFRWALSQSNPSALRETVVEVPQVTWEDIGGLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKT
LLAKAIANECQANFISIKGPELLTMWFGESEANVREIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRVINQIL
TEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLDQLIYIPLPDEKSRVAILKANLRKSPVAKDVDLEFLAKMTNGFSGA
DLTEICQRACKLAIRESIESEIRRERERQTNPSAMEVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTLQQS
RGFGSFRFPSGNQGGAGPSQGSGGGTGGSVYTEDNDDDLYG*

Gene Symbol:VCP
Accession:NM_007126
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASGADSKGDDLSTAILKQKNRPNRLIVDEAINEDNSVVSLSQPKMDELQLFRGDTVLLKGKKRREAVCIVLSDDTCSDE
KIRMNRVVRNNLRVRLGDVISIQPCPDVKYGKRIHVLPIDDTVEGITGNLFEVYLKPYFLEAYRPIRKGDIFLVRGGMRA
VEFKVVETDPSPYCIVAPDTVIHCEGEPIKREDEEESLNEVGYDDIGGCRKQLAQIKEMVELPLRHPALFKAIGVKPPRG
ILLYGPPGTGKTLIARAVANETGAFFFLINGPEIMSKLAGESESNLRKAFEEAEKNAPAIIFIDELDAIAPKREKTHGEV
ERRIVSQLLTLMDGLKQRAHVIVMAATNRPNSIDPALRRFGRFDREVDIGIPDATGRLEILQIHTKNMKLADDVGLEQVA
NETHGHVGADLAALCSEAALQAIRKKMDLIDLEDETIDAEVMNSLAVTMDDFRWALSQSNPSALRETVVEVPQVTWEDIG
GLEDVKRELQELVQYPVEHPDKFLKFGMTPSKGVLFYGPPGCGKTLLAKAIANECQANFISIKGPELLTMWFGESEANVR
EIFDKARQAAPCVLFFDELDSIAKARGGNIGDGGGAADRVINQILTEMDGMSTKKNVFIIGATNRPDIIDPAILRPGRLD
QLIYIPLPDEKSRVAILKANLRKSPVAKDVDLEFLAKMTNGFSGADLTEICQRACKLAIRESIESEIRRERERQTNPSAM
EVEEDDPVPEIRRDHFEEAMRFARRSVSDNDIRKYEMFAQTLQQSRGFGSFRFPSGNQGGAGPSQGSGGGTGGSVYTEDN
DDDLYG*
Variant Samples
Additional References at PubMed
PMID:33004675  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001271084 CLINVAR
dbSNP (RS) rs1828721782 CLINVAR
NCBI Gene VCP CLINVAR
OMIM 601023 CLINVAR
OMIM Allele 601023.0014 CLINVAR