Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

VARIANT - TERM ANNOTATION REPORT

CRRD ID: 11049598
Species: Homo sapiens
CRRD Object: Variant
Symbol: CV224877
Name: NM_018129.4(PNPO):c.674G>A (p.Arg225His)
Acc ID: DOID:0111203
Term: distal hereditary motor neuronopathy type 5
Definition: An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22703882 "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)
CV224877 IAGP 8554872ClinVarClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 5

PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25741868, PMID:25762494, PMID:28492532, PMID:30311386
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.