RGD:13470598 Rat Genome Database

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Variant: RGD:13470598 -  Homo sapiens

RGD ID: 13470598
RS ID: rs12349922
ClinVar ID: CV459541
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VCP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,061,695
GRCh38 9 35,061,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_657:g.16045G>T
NG_007887.1:g.16045G>T
NC_000009.12:g.35061698C>A
NC_000009.11:g.35061695C>A
More... 		11/25/2020 intron variant benign AllHighlyPenetrant; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; MULTISYSTEM PROTEINOPATHY 1; none provided; VCP-Related Amyotrophic Lateral Sclerosis; VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Variant Details
Variant Transcripts
Gene Symbol:VCP
Accession:NM_001354927
Location:INTRON

Gene Symbol:VCP
Accession:NM_007126
Location:INTRON

Gene Symbol:VCP
Accession:NM_001354928
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000546267 CLINVAR
  RCV001166032 CLINVAR
  RCV001166033 CLINVAR
  RCV001289413 CLINVAR
  RCV001702503 CLINVAR
dbSNP (RS) rs12349922 CLINVAR
MedGen C3661900 CLINVAR
  C4551951 CLINVAR
  C5436279 CLINVAR
  CN169374 CLINVAR
NCBI Gene VCP CLINVAR
OMIM 167320 CLINVAR
  601023 CLINVAR
  613954 CLINVAR