NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) AND Pilomatrixoma
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019147.6
Allele description [Variation Report for NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)]
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
Condition(s)
- Name:
- Pilomatrixoma (PTR)
- Synonyms:
- EPITHELIOMA CALCIFICANS OF MALHERBE; Pilomatricoma; Calcifying epithelioma of Malherbe; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007564; MeSH: D018296; MedGen: C0206711; Orphanet: 91414; OMIM: 132600; Human Phenotype Ontology: HP:0030434
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Taxonomy Links for Nucleotide (Select 2463694782) (1)
Taxonomy
-
Taxonomy Links for Protein (Select 74147422) (1)
Taxonomy
-
Homo sapiens latent TGF beta binding protein 3 (LTBP-3) mRNA, partial cds
Homo sapiens latent TGF beta binding protein 3 (LTBP-3) mRNA, partial cdsgi|2282065|gb|AF011407.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024