NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg) AND Pilomatrixoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 14, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000444074.1
Allele description [Variation Report for NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)]
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)
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
-
Homo sapiens keratin 4 (KRT4), mRNA
Homo sapiens keratin 4 (KRT4), mRNAgi|1519242731|ref|NM_002272.4|Nucleotide
-
Internal carotid artery dissection
Internal carotid artery dissectionMedGen
-
C0751815[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Oct 7, 2023