NM_000535.7(PMS2):c.2117A>G (p.Lys706Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003310271.2
Allele description [Variation Report for NM_000535.7(PMS2):c.2117A>G (p.Lys706Arg)]
NM_000535.7(PMS2):c.2117A>G (p.Lys706Arg)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
PDZ domain-containing protein [Flavobacterium nackdongense]
PDZ domain-containing protein [Flavobacterium nackdongense]gi|1594505780|gnl|PRJNA526406|E1750 5|gb|QBN18936.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024