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VARIANT - TERM ANNOTATION REPORT

RGD ID: 127261694
Species: Homo sapiens
RGD Object: Variant
Symbol: CV1063079
Name: NM_000359.3(TGM1):c.211C>T (p.Arg71Ter)
Acc ID: DOID:0060656
Term: autosomal recessive congenital ichthyosis 1
Definition: An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7824952 "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)
CV1063079 IAGP 8554872ClinVarClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1PMID:18948357 PMID:19241467 PMID:25741868 PMID:25808943 PMID:28492532
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