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VARIANT - TERM ANNOTATION REPORT

RGD ID: 14731185
Species: Homo sapiens
RGD Object: Variant
Symbol: CV648718
Name: NM_015937.6(PIGT):c.835C>T (p.Arg279Ter)
Acc ID: DOID:0080140
Term: multiple congenital anomalies-hypotonia-seizures syndrome 3
Definition: A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/36177944/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21493957 "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)
CV648718 IAGP 8554872ClinVarClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3PMID:24906948 PMID:25943031 PMID:28492532
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