NM_000314.8(PTEN):c.731C>T (p.Pro244Leu) AND PTEN hamartoma tumor syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004010158.2
Allele description [Variation Report for NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)]
NM_000314.8(PTEN):c.731C>T (p.Pro244Leu)
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
-
Homo sapiens
Homo sapiensSTRSeq D5S818 Sequence-Based AllelesBioProject
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Last Updated: May 7, 2024