Pilomatrixoma(Epithelioma calcificans of Malherbe) Explore Disorder's Alias
An Somatic mutation mode(s) within the Cancer disorders category
Candidate Gene Information
An Somatic mutation mode(s) within the Cancer disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | CTNNB1/1499 | catenin beta 1 | 3p22.1 | Chr3, NC_000003.12 (41199505..41240443) |
40939 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD |
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Clinical Symptoms & Disabilities