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GENE - TERM ANNOTATION REPORT

RGD ID: 1313184
Species: Mus musculus
RGD Object: Gene
Symbol: Afg3l2
Name: AFG3-like AAA ATPase 2
Acc ID: DOID:0050977
Term: spinocerebellar ataxia type 28
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Afg3l2 IMP 11532671RGD  
Afg3l2 ISOAFG3L2 (Homo sapiens)11532673RGDDNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human) 
Afg3l2 ISOAFG3L2 (Homo sapiens)11532674RGDDNA:missense mutations: :multiple 
Afg3l2 ISOAFG3L2 (Homo sapiens)11532675RGDDNA:missense mutation:exon:p.E700K (c.2098G>A) (human) 
Afg3l2 ISOAFG3L2 (Homo sapiens)11532678RGDDNA:missense mutation:exon:p.P688T (c.2062C>A) (human)  
Afg3l2 ISOAFG3L2 (Homo sapiens)11534993RGDDNA:deletion 
Afg3l2 ISOAFG3L2 (Homo sapiens)7240710OMIM  
Afg3l2 ISOAFG3L2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Afg3l2 ISOAFG3L2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar ataxia type 28PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25401298 PMID:25741868 PMID:25741869 PMID:26454370 PMID:26467025 PMID:26633542 PMID:27165006 PMID:28444220 PMID:28492532 PMID:29053796 PMID:30773800 PMID:31111429 PMID:31327635 PMID:33956305 PMID:34333379
Afg3l2 IAGP 13592920MouseDOOMIM:610246 
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