NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr) AND PTEN hamartoma tumor syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621050.1
Allele description
NM_000314.8(PTEN):c.1013C>A (p.Ser338Tyr)
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
-
Ifi30 interferon gamma inducible protein 30 [Mus musculus]
Ifi30 interferon gamma inducible protein 30 [Mus musculus]Gene ID:65972Gene
-
65972[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024