NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000131777.8
Allele description [Variation Report for NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)]
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
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
-
AP-1 complex subunit mu-1 isoform 1 [Homo sapiens]
AP-1 complex subunit mu-1 isoform 1 [Homo sapiens]gi|194473724|ref|NP_001123996.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024