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
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
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Vaccinium crassifolium internal transcribed spacer 1, partial sequence; 5.8S rib...
Vaccinium crassifolium internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|30408138|gb|AY274580.1|Nucleotide
-
Vaccinium cylindraceum internal transcribed spacer 1, partial sequence; 5.8S rib...
Vaccinium cylindraceum internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|30408132|gb|AY274574.1|Nucleotide
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Last Updated: Sep 16, 2024