NM_000314.8(PTEN):c.1159C>T (p.Pro387Ser) AND PTEN hamartoma tumor syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001372683.7
Allele description [Variation Report for NM_000314.8(PTEN):c.1159C>T (p.Pro387Ser)]
NM_000314.8(PTEN):c.1159C>T (p.Pro387Ser)
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
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EDA ectodysplasin A [Homo sapiens]
EDA ectodysplasin A [Homo sapiens]Gene ID:1896Gene
-
Gene Links for GEO Profiles (Select 71239164) (1)
Gene
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STARD8 StAR related lipid transfer domain containing 8 [Homo sapiens]
STARD8 StAR related lipid transfer domain containing 8 [Homo sapiens]Gene ID:9754Gene
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Gene Links for GEO Profiles (Select 71239815) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024