KEGG   VARIANT: 5981v1
Entry
5981v1                      Variant                                
Name
RFC1 mutation
Type
Loss of function
Gene
RFC1  replication factor C subunit 1 [KO:K10754]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 102579
Network
nt06504  Base excision repair
nt06509  DNA replication
Disease
H02366  Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
Reference
PMID:32851396
  Authors
Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH
  Title
A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
  Journal
Brain 143:2673-2680 (2020)
DOI:10.1093/brain/awaa203
Reference
PMID:35306791
  Authors
Kulshreshtha D, Ganguly J, Jog M
  Title
Expanding the Clinical Spectrum of RFC1 Gene Mutations.
  Journal
J Mov Disord jmd.21117 (2022)
DOI:10.14802/jmd.21117
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