NM_000314.8(PTEN):c.801+1del AND PTEN hamartoma tumor syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000461085.14
Allele description [Variation Report for NM_000314.8(PTEN):c.801+1del]
NM_000314.8(PTEN):c.801+1del
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
-
AKR1D1 [Rissa tridactyla]
AKR1D1 [Rissa tridactyla]Gene ID:128908214Gene
-
GLB1L [Rana temporaria]
GLB1L [Rana temporaria]Gene ID:120944197Gene
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Last Updated: Aug 25, 2024