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VARIANT - TERM ANNOTATION REPORT

RGD ID: 152050807
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1626499
Name: NM_001365536.1(SCN9A):c.4836C>T (p.Ile1612=)
Acc ID: DOID:0070155
Term: hereditary sensory and autonomic neuropathy type 2A
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/14152533 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15060842 "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)
CV1626499 IAGP 8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2APMID:28492532
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