RGD:127248218 Rat Genome Database

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Variant: RGD:127248218 -  Homo sapiens

RGD ID: 127248218
RS ID: rs541980846
ClinVar ID: CV1076441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VCP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,065,383
GRCh38 9 35,065,386
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.311-5C>T
NM_001354928.2:c.311-5C>T
NM_007126.5:c.446-5C>T
LRG_657:g.12357C>T
More... 		08/02/2021 intron variant likely benign|uncertain significance Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; VCP-Related Amyotrophic Lateral Sclerosis; VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VCP
Accession:NM_001354928
Location:INTRON

Gene Symbol:VCP
Accession:NM_007126
Location:INTRON

Gene Symbol:VCP
Accession:NM_001354927
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001394423 CLINVAR
  RCV002329415 CLINVAR
dbSNP (RS) rs541980846 CLINVAR
MedGen C0950123 CLINVAR
  C5436279 CLINVAR
NCBI Gene VCP CLINVAR
OMIM 601023 CLINVAR
  613954 CLINVAR