NM_000535.7(PMS2):c.2051T>A (p.Leu684Gln) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004518712.1
Allele description [Variation Report for NM_000535.7(PMS2):c.2051T>A (p.Leu684Gln)]
NM_000535.7(PMS2):c.2051T>A (p.Leu684Gln)
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
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Gm34536 predicted gene, 34536 [Mus musculus]
Gm34536 predicted gene, 34536 [Mus musculus]Gene ID:102637823Gene
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Gm34536 AND (alive[prop]) (1)
Gene
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LOC102724977 [Homo sapiens]
LOC102724977 [Homo sapiens]Gene ID:102724977Gene
-
Maternal-Fetal Exchange
Maternal-Fetal ExchangeExchange of substances between the maternal blood and the fetal blood at the PLACENTA via PLACENTAL CIRCULATION. The placental barrier excludes microbial or viral transmission...<br/>MeSH
-
IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 (pseudogene) [Homo sapiens...
IGHVIII-11-1 immunoglobulin heavy variable (III)-11-1 (pseudogene) [Homo sapiens]Gene ID:28352Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024